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5. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Author

Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A., Antonarakis, Stylianos E., Brussino, Alessandro, and Brusco, Alfredo

Published
2015
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8. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Author

Tezenas du Montcel, Sophie, Durr, Alexandra, Bauer, Peter, Figueroa, Karla P., Ichikawa, Yaeko, Brussino, Alessandro, Forlani, Sylvie, Rakowicz, Maria, Schöls, Ludger, Mariotti, Caterina, van de Warrenburg, Bart P.C., Orsi, Laura, Giunti, Paola, Filla, Alessandro, Szymanski, Sandra, Klockgether, Thomas, Berciano, José, Pandolfo, Massimo, Boesch, Sylvia, Melegh, Bela, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, and Stevanin, Giovanni

Published
2014
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9. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Author

Di Gregorio, Eleonora, Bianchi, Federico T, Schiavi, Alfonso, Chiotto, Alessandra M A, Rolando, Marco, Verdun di Cantogno, Ludovica, Grosso, Enrico, Cavalieri, Simona, Calcia, Alessandro, Lacerenza, Daniela, Zuffardi, Orsetta, Retta, Saverio Francesco, Stevanin, Giovanni, Marelli, Cecilia, Durr, Alexandra, Forlani, Sylvie, Chelly, Jamel, Montarolo, Francesca, Tempia, Filippo, Beggs, Hilary E, Reed, Robin, Squadrone, Stefania, Abete, Maria C, Brussino, Alessandro, Ventura, Natascia, Di Cunto, Ferdinando, and Brusco, Alfredo

Published
2013
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10. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Author

Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S., Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L., Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, and Padiath, Quasar Saleem

Published
2013
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12. Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias

Author

Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L., Holmes, Susan E., Nobili, Marcello, Forlani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cécile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Dürr, Alexandra, and Brusco, Alfredo

Published
2010
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14. SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

Author

Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo, Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, and Brusco, Alfredo

Subjects
ataxia, method, sca
Abstract

Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified. Next-generation sequencing still does not allow efficient detection of these repeats. Here, we show the efficacy of a novel, rapid, and cost-effective method to identify and size pathogenic expansions in SCA1-3, 6, and 7 and recognize large alleles or interruptions without a second-level test. Twenty-five healthy controls and 33 expansion carriers were analyzed: alleles migrated consistently in different PCRs/capillary runs, and homozygous subjects were always distinguishable from heterozygous carriers of both common and large (>100 repeats) pathogenic CAG expansions. Repeat number could be calculated counting the number of peaks, except for the largest SCA2 and SCA7 alleles. Interruptions in SCA1 were always visible. Overall, our method allows a simpler, cost-effective, and sensibly faster SCA diagnostic protocol compared to the standard technique and to the still unadapted next-generation sequencing.

Published
2018

19. Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes

Author

Mancini Cecilia, Messana Erika, Turco Emilia, Brussino Alessandro, and Brusco Alfredo

Subjects
Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Abstract In the preparation of transgenic murine ES cells it is important to verify the construct has a single insertion, because an ectopic neomycin phosphortransferase positive selection cassette (NEO) may cause a position effect. During a recent work, where a knockin SCA28 mouse was prepared, we developed two assays based on Real-Time PCR using both SYBR Green and specific minor groove binder (MGB) probes to evaluate the copies of NEO using the comparative delta-delta Ct method versus the Rpp30 reference gene. We compared the results from Southern blot, routinely used to quantify NEO copies, with the two Real-Time PCR assays. Twenty-two clones containing the single NEO copy showed values of 0.98 ± 0.24 (mean ± 2 S.D.), and were clearly distinguishable from clones with two or more NEO copies. This method was found to be useful, easy, sensitive and fast and could substitute for the widely used, but laborious Southern blot method.

Published
2011
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20. Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models

Author

Pietro, Cortelli, Brusco, Alfredo, Brussino, Alessandro, Giorgio, Elisa, Antonarakis, Stylianos E., Len, Pennacchio, Malte, Spielmann, DI GREGORIO, Eleonora, Sabina, Capellari, Anna Bartoletti Stella, Rossana, Terlizzi, Piero, Parchi, Rocco, Liguori, Stefano, Zanigni, Caterina, Tonon, Raffele, Lodi, Giovanna, Vaula, Andrea, Contestabile, Sameehan, Mahajani, Caterina, Giacomini, and Laura, Gasparini

Subjects
LMNB1, ADLD
Published
2015

21. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.

Author

Giorgio, Elisa, Lorenzati, Martina, Cervo, Pia Rivetti di Val, Brussino, Alessandro, Cernigoj, Manuel, Sala, Edoardo Della, Stella, Anna Bartoletti, Ferrero, Marta, Caiazzo, Massimiliano, Capellari, Sabina, Cortelli, Pietro, Conti, Luciano, Cattaneo, Elena, Buffo, Annalisa, Brusco, Alfredo, Rivetti di Val Cervo, Pia, Della Sala, Edoardo, and Bartoletti Stella, Anna

Subjects
GENE silencing, SMALL interfering RNA, PLANT gene silencing, SINGLE nucleotide polymorphisms, LEUKODYSTROPHY, TRINUCLEOTIDE repeats, CHROMOSOME duplication
Abstract

Allele-specific silencing by RNA interference (ASP-siRNA) holds promise as a therapeutic strategy for downregulating a single mutant allele with minimal suppression of the corresponding wild-type allele. This approach has been effectively used to target autosomal dominant mutations and single nucleotide polymorphisms linked with aberrantly expanded trinucleotide repeats. Here, we propose ASP-siRNA as a preferable choice to target duplicated disease genes, avoiding potentially harmful excessive downregulation. As a proof-of-concept, we studied autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) due to lamin B1 (LMNB1) duplication, a hereditary, progressive and fatal disorder affecting myelin in the CNS. Using a reporter system, we screened the most efficient ASP-siRNAs preferentially targeting one of the alleles at rs1051644 (average minor allele frequency: 0.45) located in the 3' untranslated region of the gene. We identified four siRNAs with a high efficacy and allele-specificity, which were tested in ADLD patient-derived fibroblasts. Three of the small interfering RNAs were highly selective for the target allele and restored both LMNB1 mRNA and protein levels close to control levels. Furthermore, small interfering RNA treatment abrogates the ADLD-specific phenotypes in fibroblasts and in two disease-relevant cellular models: murine oligodendrocytes overexpressing human LMNB1, and neurons directly reprogrammed from patients' fibroblasts. In conclusion, we demonstrated that ASP-silencing by RNA interference is a suitable and promising therapeutic option for ADLD. Moreover, our results have a broad translational value extending to several pathological conditions linked to gene-gain in copy number variations. [ABSTRACT FROM AUTHOR]

Published
2019
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22. A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes.

Author

Giorgio, Elisa, Sirchia, Fabio, Bosco, Martino, Sobreira, Nara Lygia M., Grosso, Enrico, Brussino, Alessandro, and Brusco, Alfredo

Abstract

Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with biallelic variants affecting the lamin B receptor (LBR) gene. LBR is also associated with the autosomal recessive anadysplasia‐like spondylometaphyseal dysplasia, and the autosomal dominant Pelger–Huët anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes. The LBR is an inner nuclear membrane protein that binds lamin B proteins (LMNB1 and LMNB2), interacts with chromatin, and exerts a sterol reductase activity. Here, we report on a novel LBR missense variant [c.1379A>G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family. We revised published LBR variants to propose a genotype–phenotype correlation in LBR associated diseases. The diverse phenotypes are correlated to the functional domain affected, the heterozygous or homozygous state of the variants, and their different impact on the residual protein function. LBR represents an instructive example of one gene presenting with two different patterns of inheritance and at least three different clinical phenotypes. [ABSTRACT FROM AUTHOR]

Published
2019
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23. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Author

Di Bella Daniela, Lazzaro Federico, Brusco Alfredo, Plumari Massimo, Battaglia Giorgio, Pastore A, Finardi Adele, Cagnoli Claudia, Tempia Filippo, Frontali Marina, Veneziano Liana, Sacco Tiziana, Boda Enrica, Brussino Alessandro, Bonn Florian, Castellotti Barbara, Baratta Silvia, Mariotti Caterina, Gellera Cinzia, Fracasso Valentina, Magri Stefania, Langer Thomas, Plevani Paolo, Di Donato Stefano, Muzi-Falconi Marco, Taroni Franco, RI Tempia Filippo/A-5883-2012 Muzi-Falconi Marco/A-6035-2012 Di Donato Stefano/B-9717-2012, Di Bella, Daniela, Lazzaro, Federico, Brusco, Alfredo, Plumari, Massimo, Battaglia, Giorgio, Pastore, A, Finardi, Adele, Cagnoli, Claudia, Tempia, Filippo, Frontali, Marina, Veneziano, Liana, Sacco, Tiziana, Boda, Enrica, Brussino, Alessandro, Bonn, Florian, Castellotti, Barbara, Baratta, Silvia, Mariotti, Caterina, Gellera, Cinzia, Fracasso, Valentina, Magri, Stefania, Langer, Thoma, Plevani, Paolo, Di Donato, Stefano, Muzi-Falconi, Marco, Taroni, Franco, and RI Tempia Filippo/A-5883-2012 Muzi-Falconi Marco/A-6035-2012 Di Donato, Stefano/B-9717-2012

Subjects
Cerebellum, Ataxia, cerebellum, Purkinje cell, Cell Respiration, Molecular Sequence Data, Mutation, Missense, Saccharomyces cerevisiae, Mitochondrion, Biology, medicine.disease_cause, Electron Transport Complex IV, Metalloprotease, Purkinje Cells, SCA28, ATP-Dependent Proteases, Genetics, medicine, Humans, AFG3L2, Spinocerebellar Degenerations, Adenosine Triphosphatases, Spinocerebellar Ataxia, Mutation, Paraplegin, Base Sequence, Neurodegeneration, Genetic Complementation Test, ataxia, medicine.disease, Mitochondria, medicine.anatomical_structure, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, medicine.symptom
Abstract

Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA–deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.

Published
2010
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24. LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION

Author

Giorgio, Elisa, Favaro, Livio, LO BUONO, Nicola, Mancini, Cecilia, Giovanna Vaula, 3, Pietro Cortelli, 4, Sabina Capellari, 4, Paola Mandich, 5, Niklas Dahl, 6, Atle Melberg, 7, Pozzi, Elisa, DI GREGORIO, Eleonora, Cavalieri, Simona, Pierre Labauge, 9, Eleonore Eymard Pierre, 9, Harshvardhan Rolyan 10, Odile Boespflug Tanguy, 9, 11, 13, Laura Gasparini 14, Quasar Saleem Padiath 10, Brussino, Alessandro, Brusco, Alfredo, and 8

Published
2014

26. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Author

Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, and Brusco, Alfredo

Subjects
Article Subject
Abstract

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.

Published
2014
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27. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA

Author

Mancini, Cecilia, Nassani2, S., Guo3, Y., Giorgio, Elisa, Calcia, Alessandro, Liu4, X., DI GREGORIO, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Brussino, Alessandro, Xie4, Y., Wang3, F., Tian3, L., Chen4, W., Nmezi6, B., Padiath6, Q. S., Jiang4, H., 7, Kyttala8, A., Pizio2, N. R., Hakonarson3, H., 10, 9, and Brusco, Alfredo

Published
2014

29. A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2.

Author

Zonta, Andrea, Brussino, Alessandro, Dentelli, Patrizia, and Brusco, Alfredo

Abstract

A 4-year-old girl was referred to the geneticist with a history of ataxia associated with intention tremor of the hands, strabismus and hypermetropy. Her symptoms presented about 2 years earlier with inability to walk unaided and lower limbs hypotonia. Cognitive functions were normal. Brain MRI showed a cerebellar and vermian hypoplasia with enlargement of both the cerebrospinal fluid spaces and the IV brain ventricle. Family history was unremarkable. A genetic screening using a 42-gene panel for hereditary ataxia/spastic paraparesis identified a de novo c.1438C>T - p.(Arg480Trp) missense change in the SPTBN2 gene (NM_006946.2). This variant is reported to be associated with congenital ataxia, later evolving into ataxia and intellectual disability. This case further supports the existence of a specific SPTBN2 p.(Arg480Trp)- associated phenotype, with a de novo recurrence of this variant in the heterozygous state. [ABSTRACT FROM AUTHOR]

Published
2020
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31. Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines

Author

Mancini, Cecilia, Roncaglia, P, Brussino, Alessandro, Stevanin, G, LO BUONO, Nicola, Krmac, H, Maltecca, F, Gazzano, Elena, Bartoletti Stella, A., Calvaruso, M. A., Iommarini, L., Cagnoli, Claudia, Forlani, S, Le Ber, I, Durr, A, Brice, A, Ghigo, Dario Antonio, Casari, G, Porcelli, Am, Funaro, Ada, Gasparre, G, Gustincich, S, and Brusco, Alfredo

Published
2013

40. CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS

Author

Denise, Ferrera, Caterina, Giacomini, Claudio, Canale, Giorgio, Elisa, Brussino, Alessandro, Sabina, Capellari, Roberto, Marotta, DI GREGORIO, Eleonora, Giovanna, Vaula, Robyr, D., Antonarakis, S. E., Mandich, P., Brusco, Alfredo, Pietro, Cortelli, and Laura, Gasparini

Published
2011

43. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias

Author

Cagnoli, Claudia, Stevanin, G, Brussino, Alessandro, Barberis, MARCO ANDREA, Mancini, Cecilia, Margolis, Rl, Holmes, Se, Nobili, M, Forlani, S, Padovan, S, Pappi, P, Zaros, C, Leber, I, Ribai, P, Pugliese, L, Assalto, C, Brice, A, Migone, Nicola, Dürr, A, and Brusco, Alfredo

Subjects
SCA28, spinocerebellar ataxia, autosomal dominant cerebellar ataxia, AFG3L2
Published
2010

48. Spinocerebellar ataxia type 12 identified in two Italian families

Author

Brussino, Alessandro, Graziano, C, Giobbe, D, Dragone, E, Ferrone, Marina Maria Teresa, Lodi, R, Tonon, C, Gabellino, As, Rinaldi, R, Miccoli, S, Grosso, E, Bellati, Mc, Orsi, L, Migone, Nicola, and Brusco, Alfredo

Subjects
SCA12, Spinocerebellar ataxia
Published
2009

50. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Author

Giorgio, Elisa, Brussino, Alessandro, Biamino, Elisa, Belligni, Elga Fabia, Bruselles, Alessandro, Ciolfi, Andrea, Caputo, Viviana, Pizzi, Simone, Calcia, Alessandro, Di Gregorio, Eleonora, Cavalieri, Simona, Mancini, Cecilia, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Borelli, Iolanda, Amoroso, Antonio, Ferrero, Giovanni Battista, Tartaglia, Marco, and Brusco, Alfredo

Abstract

Background More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10–15% of intellectual disability (ID). Method To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth). Results WES allowed to solve the genetic basis in four cases, two of which (Coffin-Lowry syndrome, RPS6K3 gene; ATRX syndrome, ATRX gene) had been missed by previous clinical/genetics tests. One further ATRX case showed a complex phenotype including pontocerebellar atrophy (PCA), possibly associated to an unidentified PCA gene mutation. In a case with suspected Lujan-Fryns syndrome, a c.649C>T (p.Pro217Ser) MECP2 missense change was identified, likely explaining the neurological impairment, but not the marfanoid features, which were possibly associated to the p.Thr1020Ala variant in fibrillin 1. Finally, a c.707T>G variant (p.Phe236Cys) in the DMD gene was identified in a patient retrospectively recognized to be affected by Becker muscular dystrophy (BMD, OMIM 300376). Conclusion Overall, our data show that WES may give hints to solve complex ID phenotypes with a likely X-linked transmission, and that a significant proportion of these orphan conditions might result from concomitant mutations affecting different clinically associated genes. [ABSTRACT FROM AUTHOR]

Published
2017
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