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3. MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Author

Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, and Milewicz, Dianna M.

Published
2019
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4. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Author

Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., Bourbon, Mafalda, Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., and Bourbon, Mafalda

Abstract

Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified. Methods: The multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached. Results: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others. Conclusion: Establishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH.

Published
2022

7. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Author

Chora, Joana R., primary, Iacocca, Michael A., additional, Tichý, Lukáš, additional, Wand, Hannah, additional, Kurtz, C. Lisa, additional, Zimmermann, Heather, additional, Leon, Annette, additional, Williams, Maggie, additional, Humphries, Steve E., additional, Hooper, Amanda J., additional, Trinder, Mark, additional, Brunham, Liam R., additional, Costa Pereira, Alexandre, additional, Jannes, Cinthia E., additional, Chen, Margaret, additional, Chonis, Jessica, additional, Wang, Jian, additional, Kim, Serra, additional, Johnston, Tami, additional, Soucek, Premysl, additional, Kramarek, Michal, additional, Leigh, Sarah E., additional, Carrié, Alain, additional, Sijbrands, Eric J., additional, Hegele, Robert A., additional, Freiberger, Tomáš, additional, Knowles, Joshua W., additional, and Bourbon, Mafalda, additional

Published
2022
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9. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Author

Morales, Ana, primary, Ing, Alexander, additional, Antolik, Christian, additional, Austin-Tse, Christina, additional, Baudhuin, Linnea M., additional, Bronicki, Lucas, additional, Cirino, Allison, additional, Hawley, Megan H., additional, Fietz, Michael, additional, Garcia, John, additional, Ho, Carolyn, additional, Ingles, Jodie, additional, Jarinova, Olga, additional, Johnston, Tami, additional, Kelly, Melissa A., additional, Kurtz, C. Lisa, additional, Lebo, Matt, additional, Macaya, Daniela, additional, Mahanta, Lisa, additional, Maleszewski, Joseph, additional, Manrai, Arjun K., additional, Murray, Mitzi, additional, Richard, Gabriele, additional, Semsarian, Chris, additional, Thomson, Kate L., additional, Winder, Tom, additional, Ware, James S., additional, Hershberger, Ray E., additional, Funke, Birgit H., additional, and Vatta, Matteo, additional

Published
2021
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10. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Author

Chora, Joana R., primary, Iacocca, Michael A., additional, Tichy, Lukas, additional, Wand, Hannah, additional, Kurtz, C. Lisa, additional, Zimmermann, Heather, additional, Leon, Annette, additional, Williams, Maggie, additional, Humphries, Steve E., additional, Hooper, Amanda J., additional, Trinder, Mark, additional, Brunham, Liam R., additional, Pereira, Alexandre Costa, additional, Jannes, Cinthia E., additional, Chen, Margaret, additional, Chonis, Jessica, additional, Wang, Jian, additional, Kim, Serra, additional, Johnston, Tami, additional, Soucek, Premysl, additional, Kramarek, Michal, additional, Leigh, Sarah E., additional, Carrie, Alain, additional, Sijbrands, Eric J., additional, Hegele, Robert A., additional, Freiberger, Tomas, additional, Knowles, Joshua W., additional, and Bourbon, Mafalda, additional

Published
2021
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11. MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

Author

Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, and Milewicz, Dianna M.

Subjects
Adult, Male, Heterozygote, MYLK, acute aortic dissection, Calcium-Binding Proteins, Aortic Diseases, High-Throughput Nucleotide Sequencing, Middle Aged, thoracic aortic surgery, Article, Pedigree, Aortic Dissection, myosin light chain kinase, Pregnancy, cardiovascular system, Humans, Female, Genetic Testing, hereditary thoracic aortic disease, Myosin-Light-Chain Kinase, Aorta, Aged
Abstract

Purpose Heritable thoracic aortic disease (HTAD) can result from null variants in MYLK, which encodes myosin light chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited. Methods Clinical data from 33 cases with MYLK pathogenic variants were analyzed (5 null and 2 missense variants) and the effect of missense variants on kinase activity was assessed. Results Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm repair or dissection); the majority of these events were aortic dissections (87%). Aortic diameters were minimally enlarged at the time of dissection in many cases. Time to aortic event curves showed missense mutation carriers have earlier onset aortic events than null mutation carriers. A MYLK missense variant segregated with aortic disease over five generations but only marginally decreases MLCK kinase activity, and functional assays fail to identify all pathogenic variants in MYLK. Conclusions These data further define aortic phenotype associated with MYLK pathogenic variants. Given minimal aortic enlargement prior to dissection, an alternative approach to guide the timing of aortic repair is proposed based the probability of a dissection at a given age.

Published
2018

14. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLRvariant classification

Author

Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., and Bourbon, Mafalda

Abstract

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified.

Published
2022
Full Text
View/download PDF

16. MYLKpathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Author

Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, and Milewicz, Dianna M.

Abstract

Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.

Published
2019
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