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2. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Author

Palmer, Elizabeth E, Kumar, Raman, Gordon, Christopher T, Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R, Lewis, Andrea M, Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E, Cowley, Mark J, Risen, Sarah, Powell-Hamilton, Nina N, Tusi, Jessica E, Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, De Saint Basile, Geneviève, Kivuva, Emma, DDD Study, Scott, Richard H, Rendon, Cesar, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A, Amiel, Jeanne, Field, Michael, and Gecz, Jozef

Subjects
Central Nervous System, DNA-Binding Proteins, Codon, Nonsense, Intellectual Disability, Peripheral Nervous System, Limb Deformities, Congenital, Neurocognitive Disorders, Humans, High-Throughput Nucleotide Sequencing, Mandibulofacial Dysostosis, DDD Study
Published
2017
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3. Additional file 1: Table S1. of Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Author

Bostwick, Bret, McLean, Scott, Posey, Jennifer, Streff, Haley, Gripp, Karen, Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David, Farrelly, Ellyn, Louanne Hudgins, Yaping Yang, Xia, Fan, Wang, Xia, Pengfei Liu, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy, Andrews, Marisa, Hummel, Marybeth, Suneeta Madan-Khetarpal, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John, Rosenfeld, Jill, Emrick, Lisa, Nugent, Kimberly, Lupski, James, Belmont, John, Lee, Brendan, and Lalani, Seema

Subjects
body regions, nervous system, fungi
Abstract

All pathogenic, likely pathogenic or de novo variants identified on the clinical genetics laboratory report for Individuals 1001â 1008. (PDF 450 kb)

Published
2017
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4. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Author

Palmer, Elizabeth E., primary, Kumar, Raman, additional, Gordon, Christopher T., additional, Shaw, Marie, additional, Hubert, Laurence, additional, Carroll, Renee, additional, Rio, Marlène, additional, Murray, Lucinda, additional, Leffler, Melanie, additional, Dudding-Byth, Tracy, additional, Oufadem, Myriam, additional, Lalani, Seema R., additional, Lewis, Andrea M., additional, Xia, Fan, additional, Tam, Allison, additional, Webster, Richard, additional, Brammah, Susan, additional, Filippini, Francesca, additional, Pollard, John, additional, Spies, Judy, additional, Minoche, Andre E., additional, Cowley, Mark J., additional, Risen, Sarah, additional, Powell-Hamilton, Nina N., additional, Tusi, Jessica E., additional, Immken, LaDonna, additional, Nagakura, Honey, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Garrigue, Alexandrine, additional, de Saint Basile, Geneviève, additional, Kivuva, Emma, additional, Scott, Richard H., additional, Rendon, Augusto, additional, Munnich, Arnold, additional, Newman, William, additional, Kerr, Bronwyn, additional, Besmond, Claude, additional, Rosenfeld, Jill A., additional, Amiel, Jeanne, additional, Field, Michael, additional, and Gecz, Jozef, additional

Published
2017
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6. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Author

Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., and Hummel, Marybeth

Subjects
CONGENITAL heart disease, CYCLIN-dependent kinases, FACIAL abnormalities, DEVELOPMENTAL delay, EXOMES, NUCLEOTIDE sequence
Abstract

Background: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. Methods: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam and comprehensive medical history review. Results: We demonstrate greater than expected phenotypic heterogeneity, including 33% (3/9) of individuals without structural heart disease on echocardiogram. There was a high penetrance for a unique constellation of facial dysmorphism and global developmental delay, as well as less frequently seen renal and sacral anomalies. Two individuals had novel CDK13 variants (p.Asn842Asp, p.Lys734Glu), while the remaining seven unrelated individuals had a recurrent, previously published p.Asn842Ser variant. Summary of all variants published to date demonstrates apparent restriction of pathogenic variants to the protein kinase domain with clustering in the ATP and magnesium binding sites. Conclusions: Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified. [ABSTRACT FROM AUTHOR]

Published
2017
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