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2. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Author

Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine M

Subjects
Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity
Abstract

PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors.MethodsA total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study.ResultsNone of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_2972del.ConclusionWe demonstrate that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas. However, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.

Published
2019

3. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Author

Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha, Aylsworth, Arthur, Azizi, Amedeo, Basel, Donald, Bellus, Gary, Bird, Lynne, Blazo, Maria, Burke, Leah, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria, Dills, Shelley, Dosa, Laura, Greenwood, Robert, Griffis, Cristin, Gupta, Punita, Hachen, Rachel, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi, Jordan, Justin, Kannu, Peter, Korf, Bruce, Lewis, Andrea, Listernick, Robert, Lonardo, Fortunato, Mahoney, Maurice, Ojeda, Mayra, McDonald, Marie, McDougall, Carey, Mendelsohn, Nancy, Miller, David, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary, Piscopo, Carmelo, Pond, Dinel, Randolph, Linda, Rauen, Katherine, Rednam, Surya, Rutledge, S, Saletti, Veronica, Schaefer, G, Schorry, Elizabeth, Scott, Daryl, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois, Syed, Ashraf, Trapane, Pamela, Ullrich, Nicole, Wakefield, Emily, Walsh, Laurence, Wangler, Michael, Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine

Abstract

A correction has been published to this Article. The PDF and HTML have been updated accordingly.

Published
2019

4. Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].

Author

Chen, Yunjia, Fu, Yulong, Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Liu, Jian, Bradley, William, Brown, Bryce, Shaw, Brandon, D'Agostino, Daniela, Fu, Chuanhua, and Wallis, Deeann

Subjects
RESEARCH funding, NEUROFIBROMATOSIS 1, DESCRIPTIVE statistics, GENES, GENOTYPES, PHENOTYPES
Abstract

Simple Summary: Although a large number of NF1 variants have been cataloged in public databases, known NF1 genotype-phenotype correlations are still limited. Through a retrospective analysis of a large cohort of NF1 patients at the Medical Genomics Laboratory of the University of Alabama at Birmingham, we established a novel NF1 genotype-phenotype correlation. Specifically, NF1 patients with NF1 exon 24 [19a] skipping typically exhibit a mild phenotype, characterized by the absence of severe NF1-specific clinical features, including neurofibromas. This newly established genotype-phenotype correlation will help clinicians improve the management of patients harboring NF1 exon 24 [19a] skipping variants and provide a new therapeutic target for NF1 treatment. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the NF1 gene. As of 20 November 2023, over 5000 distinct pathogenic or likely pathogenic variants have been reported in public databases. However, only a few NF1 genotype–phenotype correlations have been established so far. In this study, we present findings on 40 individuals with NF1, comprising 26 unrelated probands and 14 affected relatives, who carry one of nine NF1 heterozygous pathogenic splicing variants, all of which result in the in-frame skipping of exon 24 [19a] (NM_000267.3:r.3114_3197del, p.Asn1039_Arg1066del). These variants include c.3114-2A>G, c.3114-1G>A, c.3196A>G, c.3197G>A, c.3197G>T, c.3197+1G>A, c.3197+1G>T, c.3197+2T>C, and c.3197+3A>T. Among individuals with these variants, none exhibit externally visible plexiform neurofibromas, histopathologically confirmed cutaneous or subcutaneous neurofibromas, symptomatic spinal neurofibromas, or symptomatic optic pathway gliomas. The most prevalent, and sometimes sole, clinical feature observed in this cohort is multiple café-au-lait macules, with or without skinfold freckles: 85% and 60.5% of the individuals display six or more café-au-lait macules and freckles, respectively. In comparison to established NF1 genotype–phenotype correlations, these patients demonstrate highly similar clinical presentations to those associated with the NF1 pathogenic variant c.2970_2972del (p.Met992del), known for resulting in the mildest clinical features. Despite the generally mild phenotype, cognitive impairment, developmental delay, and/or learning difficulties are still observed in 33.3% of these patients, suggesting that learning challenges remain a prominent aspect of the phenotypic presentation in these individuals and necessitate specialized care. This newly established genotype–phenotype correlation will assist clinicians in improving the management of patients harboring NF1 exon 24 [19a] skipping variants and provide a new therapeutic target for NF1 treatment. [ABSTRACT FROM AUTHOR]

Published
2024
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10. List of Contributors

Author

Alva, Elizabeth, primary, Austin Hamm, J., additional, Chewning, Joseph H., additional, Cutillo, Alexandra, additional, Farmer, Katie, additional, Farmer, Meagan B., additional, Gomes, Alicia, additional, Higgins, Sonja, additional, Hurst, Anna C.E., additional, Hurst, Michael G., additional, Madan-Swain, Avi, additional, Robin, Nathaniel H., additional, Strong, Theresa V., additional, Whelan, Kimberly, additional, and Korf, Bruce R., additional

Published
2018
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11. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Author

Plotkin, Scott R., primary, Messiaen, Ludwine, additional, Legius, Eric, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Blakeley, Jaishri O., additional, Babovic-Vuksanovic, Dusica, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Giovannini, Marco, additional, Gutmann, David H., additional, Hanemann, Clemens Oliver, additional, Kalamarides, Michel, additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, MacCollin, Mia, additional, Papi, Laura, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Smith, Miriam J., additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Huson, Susan M., additional, Wolkenstein, Pierre, additional, Evans, D. Gareth, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Gomes, Alicia, additional, Halliday, Dorothy, additional, Helen Hanson Arvid Heiberg, Chris Hammond, additional, Joly, Pascal, additional, Jordan, Justin T., additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, Mallucci, Conor, additional, Merker, Vanessa L., additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, and Zadeh, Gelareh, additional

Published
2022
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13. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Author

Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, and Messiaen, Ludwine M

Published
2014
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14. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

Author

Piotrowski, Arkadiusz, primary, Koczkowska, Magdalena, additional, Poplawski, Andrzej B., additional, Bartoszewski, Rafał, additional, Króliczewski, Jarosław, additional, Mieczkowska, Alina, additional, Gomes, Alicia, additional, Crowley, Michael R., additional, Crossman, David K., additional, Chen, Yunjia, additional, Lao, Ping, additional, Serra, Eduard, additional, Llach, Meritxell C., additional, Castellanos, Elisabeth, additional, and Messiaen, Ludwine M., additional

Published
2021
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15. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Author

Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine

Published
2015
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16. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Author

Legius, Eric, primary, Messiaen, Ludwine, additional, Wolkenstein, Pierre, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Berman, Yemima, additional, Blakeley, Jaishri, additional, Babovic-Vuksanovic, Dusica, additional, Cunha, Karin Soares, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Gutmann, David H., additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, Peltonen, Sirkku, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Tadini, Gianluca, additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Gomes, Alicia, additional, Jordan, Justin T., additional, Mautner, Victor, additional, Merker, Vanessa L., additional, Smith, Miriam J., additional, Stevenson, David, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Giovannini, Marco, additional, Halliday, Dorothy, additional, Hammond, Chris, additional, Hanemann, C.O., additional, Hanson, Helen, additional, Heiberg, Arvid, additional, Joly, Pascal, additional, Kalamarides, Michel, additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, MacCollin, Mia, additional, Mallucci, Conor, additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Papi, Laura, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, Zadeh, Gelareh, additional, Huson, Susan M., additional, Evans, D. Gareth, additional, and Plotkin, Scott R., additional

Published
2021
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17. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Author

Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M, Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, Mcdougall, Carey, Mcgregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, and Messiaen, Ludwine M

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, INDEPENDENT NF1, Neurofibromatosis 1, NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149, NOONAN-SYNDROME, Mutation, Missense, PULMONARY STENOSIS, AU-LAIT SPOTS, Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Met1149, Alleles, Genetic Association Studies, Research Articles, Arg1276, Genetics & Heredity, SPINAL NEUROFIBROMATOSIS, Science & Technology, Neurofibromin 1, MUTATIONS, OPTIC PATHWAY TUMORS, NATURAL-HISTORY, genotype–phenotype correlation, SOUTH EAST WALES, nervous system diseases, Lys1423, Cross-Sectional Studies, Phenotype, Amino Acid Substitution, Human medicine, Life Sciences & Biomedicine, Research Article
Abstract

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with the "classic" NF1-affected cohorts (all p

Published
2019

18. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.

Author

Piotrowski, Arkadiusz, Koczkowska, Magdalena, Poplawski, Andrzej B., Bartoszewski, Rafał, Króliczewski, Jarosław, Mieczkowska, Alina, Gomes, Alicia, Crowley, Michael R., Crossman, David K., Chen, Yunjia, Lao, Ping, Serra, Eduard, Llach, Meritxell C., Castellanos, Elisabeth, and Messiaen, Ludwine M.

Abstract

Constitutional LZTR1 or SMARCB1 pathogenic variants (PVs) have been found in ∼86% of familial and ∼40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR1, SMARCB1, and NF2 genomic loci in 35 individuals with schwannomas negative for constitutional first‐hit PVs in the LZTR1/SMARCB1/NF2 coding sequences; however, with 22q deletion and/or a different NF2 PV in each tumor, including six cases with only one tumor available. Furthermore, we verified whether any other LZTR1/SMARCB1/NF2 (likely) PVs could be found in 16 cases carrying a SMARCB1 constitutional variant in the 3′‐untranslated region (3′‐UTR) c.*17C>T, c.*70C>T, or c.*82C>T. As no additional variants were found, functional studies were performed to clarify the effect of these 3′‐UTR variants on the transcript. The 3′‐UTR variants c.*17C>T and c.*82C>T showed pathogenicity by negatively affecting the SMARCB1 transcript level. Two novel deep intronic SMARCB1 variants, c.500+883T>G and c.500+887G>A, resulting in out‐of‐frame missplicing of intron 4, were identified in two unrelated individuals. Further resequencing of the entire repeat‐masked genomics sequences of chromosome 22q in individuals negative for PVs in the SMARCB1/LZTR1/NF2 coding‐ and noncoding regions revealed five potential schwannomatosis‐predisposing candidate genes, that is, MYO18B, NEFH, SGSM1, SGSM3, and SBF1, pending further verification. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Clinical spectrum of individuals with pathogenicN F1missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Author

Koczkowska, Magdalena, primary, Callens, Tom, additional, Chen, Yunjia, additional, Gomes, Alicia, additional, Hicks, Alesha D., additional, Sharp, Angela, additional, Johns, Eric, additional, Uhas, Kim Armfield, additional, Armstrong, Linlea, additional, Bosanko, Katherine Armstrong, additional, Babovic‐Vuksanovic, Dusica, additional, Baker, Laura, additional, Basel, Donald G., additional, Bengala, Mario, additional, Bennett, James T., additional, Chambers, Chelsea, additional, Clarkson, Lola K., additional, Clementi, Maurizio, additional, Cortés, Fanny M., additional, Cunningham, Mitch, additional, D'Agostino, M. Daniela, additional, Delatycki, Martin B., additional, Digilio, Maria C., additional, Dosa, Laura, additional, Esposito, Silvia, additional, Fox, Stephanie, additional, Freckmann, Mary‐Louise, additional, Fauth, Christine, additional, Giugliano, Teresa, additional, Giustini, Sandra, additional, Goetsch, Allison, additional, Goldberg, Yael, additional, Greenwood, Robert S., additional, Griffis, Cristin, additional, Gripp, Karen W., additional, Gupta, Punita, additional, Haan, Eric, additional, Hachen, Rachel K., additional, Haygarth, Tamara L., additional, Hernández‐Chico, Concepción, additional, Hodge, Katelyn, additional, Hopkin, Robert J., additional, Hudgins, Louanne, additional, Janssens, Sandra, additional, Keller, Kory, additional, Kelly‐Mancuso, Geraldine, additional, Kochhar, Aaina, additional, Korf, Bruce R., additional, Lewis, Andrea M., additional, Liebelt, Jan, additional, Lichty, Angie, additional, Listernick, Robert H., additional, Lyons, Michael J., additional, Maystadt, Isabelle, additional, Martinez Ojeda, Mayra, additional, McDougall, Carey, additional, McGregor, Lesley K., additional, Melis, Daniela, additional, Mendelsohn, Nancy, additional, Nowaczyk, Malgorzata J.M., additional, Ortenberg, June, additional, Panzer, Karin, additional, Pappas, John G., additional, Pierpont, Mary Ella, additional, Piluso, Giulio, additional, Pinna, Valentina, additional, Pivnick, Eniko K., additional, Pond, Dinel A., additional, Powell, Cynthia M., additional, Rogers, Caleb, additional, Ruhrman Shahar, Noa, additional, Rutledge, S. Lane, additional, Saletti, Veronica, additional, Sandaradura, Sarah A., additional, Santoro, Claudia, additional, Schatz, Ulrich A., additional, Schreiber, Allison, additional, Scott, Daryl A., additional, Sellars, Elizabeth A., additional, Sheffer, Ruth, additional, Siqveland, Elizabeth, additional, Slopis, John M., additional, Smith, Rosemarie, additional, Spalice, Alberto, additional, Stockton, David W., additional, Streff, Haley, additional, Theos, Amy, additional, Tomlinson, Gail E., additional, Tran, Grace, additional, Trapane, Pamela L., additional, Trevisson, Eva, additional, Ullrich, Nicole J., additional, Van den Ende, Jenneke, additional, Schrier Vergano, Samantha A., additional, Wallace, Stephanie E., additional, Wangler, Michael F., additional, Weaver, David D., additional, Yohay, Kaleb H., additional, Zackai, Elaine, additional, Zonana, Jonathan, additional, Zurcher, Vickie, additional, Claes, Kathleen B. M., additional, Eoli, Marica, additional, Martin, Yolanda, additional, Wimmer, Katharina, additional, De Luca, Alessandro, additional, Legius, Eric, additional, and Messiaen, Ludwine M., additional

Published
2019
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21. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.

Author

Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., and Cunningham, Mitch

Abstract

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5–31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan‐like phenotype, which is significantly more compared with the "classic" NF1‐affected cohorts (all p <.0001). Furthermore, p.Arg1276 and p.Lys1423 pathogenic missense variants were associated with a high prevalence of cardiovascular abnormalities, including pulmonic stenosis (all p <.0001), while p.Arg1276 variants had a high prevalence of symptomatic spinal neurofibromas (p <.0001) compared with "classic" NF1‐affected cohorts. However, p.Met1149‐positive individuals had a mild phenotype, characterized mainly by pigmentary manifestations without externally visible plexiform neurofibromas, symptomatic spinal neurofibromas or symptomatic optic pathway gliomas. As up to 0.4% of unrelated individuals in the UAB cohort carries a p.Met1149 missense variant, this finding will contribute to more accurate stratification of a significant number of NF1 individuals. Although clinically relevant genotype–phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population. [ABSTRACT FROM AUTHOR]

Published
2020
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22. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Author

Koczkowska, Magdalena, primary, Callens, Tom, additional, Gomes, Alicia, additional, Sharp, Angela, additional, Chen, Yunjia, additional, Hicks, Alesha D., additional, Aylsworth, Arthur S., additional, Azizi, Amedeo A., additional, Basel, Donald G., additional, Bellus, Gary, additional, Bird, Lynne M., additional, Blazo, Maria A., additional, Burke, Leah W., additional, Cannon, Ashley, additional, Collins, Felicity, additional, DeFilippo, Colette, additional, Denayer, Ellen, additional, Digilio, Maria C., additional, Dills, Shelley K., additional, Dosa, Laura, additional, Greenwood, Robert S., additional, Griffis, Cristin, additional, Gupta, Punita, additional, Hachen, Rachel K., additional, Hernández-Chico, Concepción, additional, Janssens, Sandra, additional, Jones, Kristi J., additional, Jordan, Justin T., additional, Kannu, Peter, additional, Korf, Bruce R., additional, Lewis, Andrea M., additional, Listernick, Robert H., additional, Lonardo, Fortunato, additional, Mahoney, Maurice J., additional, Ojeda, Mayra Martinez, additional, McDonald, Marie T., additional, McDougall, Carey, additional, Mendelsohn, Nancy, additional, Miller, David T., additional, Mori, Mari, additional, Oostenbrink, Rianne, additional, Perreault, Sebastién, additional, Pierpont, Mary Ella, additional, Piscopo, Carmelo, additional, Pond, Dinel A., additional, Randolph, Linda M., additional, Rauen, Katherine A., additional, Rednam, Surya, additional, Rutledge, S. Lane, additional, Saletti, Veronica, additional, Schaefer, G. Bradley, additional, Schorry, Elizabeth K., additional, Scott, Daryl A., additional, Shugar, Andrea, additional, Siqveland, Elizabeth, additional, Starr, Lois J., additional, Syed, Ashraf, additional, Trapane, Pamela L., additional, Ullrich, Nicole J., additional, Wakefield, Emily G., additional, Walsh, Laurence E., additional, Wangler, Michael F., additional, Zackai, Elaine, additional, Claes, Kathleen B. M., additional, Wimmer, Katharina, additional, van Minkelen, Rick, additional, De Luca, Alessandro, additional, Martin, Yolanda, additional, Legius, Eric, additional, and Messiaen, Ludwine M., additional

Published
2018
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24. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Author

Koczkowska, Magdalena, primary, Chen, Yunjia, additional, Callens, Tom, additional, Gomes, Alicia, additional, Sharp, Angela, additional, Johnson, Sherrell, additional, Hsiao, Meng-Chang, additional, Chen, Zhenbin, additional, Balasubramanian, Meena, additional, Barnett, Christopher P., additional, Becker, Troy A., additional, Ben-Shachar, Shay, additional, Bertola, Debora R., additional, Blakeley, Jaishri O., additional, Burkitt-Wright, Emma M.M., additional, Callaway, Alison, additional, Crenshaw, Melissa, additional, Cunha, Karin S., additional, Cunningham, Mitch, additional, D’Agostino, Maria D., additional, Dahan, Karin, additional, De Luca, Alessandro, additional, Destrée, Anne, additional, Dhamija, Radhika, additional, Eoli, Marica, additional, Evans, D. Gareth R., additional, Galvin-Parton, Patricia, additional, George-Abraham, Jaya K., additional, Gripp, Karen W., additional, Guevara-Campos, Jose, additional, Hanchard, Neil A., additional, Hernández-Chico, Concepcion, additional, Immken, LaDonna, additional, Janssens, Sandra, additional, Jones, Kristi J., additional, Keena, Beth A., additional, Kochhar, Aaina, additional, Liebelt, Jan, additional, Martir-Negron, Arelis, additional, Mahoney, Maurice J., additional, Maystadt, Isabelle, additional, McDougall, Carey, additional, McEntagart, Meriel, additional, Mendelsohn, Nancy, additional, Miller, David T., additional, Mortier, Geert, additional, Morton, Jenny, additional, Pappas, John, additional, Plotkin, Scott R., additional, Pond, Dinel, additional, Rosenbaum, Kenneth, additional, Rubin, Karol, additional, Russell, Laura, additional, Rutledge, Lane S., additional, Saletti, Veronica, additional, Schonberg, Rhonda, additional, Schreiber, Allison, additional, Seidel, Meredith, additional, Siqveland, Elizabeth, additional, Stockton, David W., additional, Trevisson, Eva, additional, Ullrich, Nicole J., additional, Upadhyaya, Meena, additional, van Minkelen, Rick, additional, Verhelst, Helene, additional, Wallace, Margaret R., additional, Yap, Yoon-Sim, additional, Zackai, Elaine, additional, Zonana, Jonathan, additional, Zurcher, Vickie, additional, Claes, Kathleen, additional, Martin, Yolanda, additional, Korf, Bruce R., additional, Legius, Eric, additional, and Messiaen, Ludwine M., additional

Published
2018
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25. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation: HUMAN MUTATION

Author

Gripp, Karen W., Bellus, Gary, Escobar, Luis, Babovic-Vuksanovic, Dusica, Blumberg, Bruce, Gardner, Kathy, Cortes, Fanny, Earl, Dawn, Atkin, Joan, Crenshaw, Melissa, Liu, Ying, Ben-Shachar, Shay, Xie, Jing, Ezquieta, Begona, Gomes, Alicia, Bick, David, Bialer, Martin G., Frayling, Ian M., Cochran, Meagan, Barnett, Christopher P., David, Karen L., Abbott, Mary-Alice, Callens, Tom, Sharp, Angela, Basel, Lina, Chen, Yunjia, Frydman, Moshe, Bartholomew, Dennis W., Eswara, Marthanda, Duat-Rodriguez, Anna, Destree, Anne, and Rojnueangnit, Kitiwan

Subjects
congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype–phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café‐au‐lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan‐like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1‐patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi‐exon deletion, providing genetic evidence that p.Arg1809Cys is a loss‐of‐function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.

Published
2015
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28. Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Author

Stewart, Douglas R., primary, Brems, Hilde, additional, Gomes, Alicia G., additional, Ruppert, Sarah L., additional, Callens, Tom, additional, Williams, Jennifer, additional, Claes, Kathleen, additional, Bober, Michael B., additional, Hachen, Rachel, additional, Kaban, Leonard B., additional, Li, Hua, additional, Lin, Angela, additional, McDonald, Marie, additional, Melancon, Serge, additional, Ortenberg, June, additional, Radtke, Heather B., additional, Samson, Ignace, additional, Saul, Robert A., additional, Shen, Joseph, additional, Siqveland, Elizabeth, additional, Toler, Tomi L., additional, van Maarle, Merel, additional, Wallace, Margaret, additional, Williams, Misti, additional, Legius, Eric, additional, and Messiaen, Ludwine, additional

Published
2014
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29. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Author

Piotrowski, Arkadiusz, primary, Xie, Jing, additional, Liu, Ying F, additional, Poplawski, Andrzej B, additional, Gomes, Alicia R, additional, Madanecki, Piotr, additional, Fu, Chuanhua, additional, Crowley, Michael R, additional, Crossman, David K, additional, Armstrong, Linlea, additional, Babovic-Vuksanovic, Dusica, additional, Bergner, Amanda, additional, Blakeley, Jaishri O, additional, Blumenthal, Andrea L, additional, Daniels, Molly S, additional, Feit, Howard, additional, Gardner, Kathy, additional, Hurst, Stephanie, additional, Kobelka, Christine, additional, Lee, Chung, additional, Nagy, Rebecca, additional, Rauen, Katherine A, additional, Slopis, John M, additional, Suwannarat, Pim, additional, Westman, Judith A, additional, Zanko, Andrea, additional, Korf, Bruce R, additional, and Messiaen, Ludwine M, additional

Published
2013
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31. Colaboradores

Author

Alva, Elizabeth, Hamm, J. Austin, Chewning, Joseph H., Cutillo, Alexandra, Farmer, Katie, Farmer, Meagan B., Gomes, Alicia, Higgins, Sonja, Hurst, Anna C.E., Hurst, Michael G., Madan-Swain, Avi, Robin, Nathaniel H., Strong, Theresa V., Whelan, Kimberly, and Korf, Bruce R.

Published
2018
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