Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome

Molecular syndromology

article

Penon-Portmann, Monica¹  Carlston, Colleen M.¹  Martin, Pierre-Marie²  Slavotinek, Anne¹ 

[1] Division of Medical Genetics, Department of Pediatrics, University of California San Francisco;Institute for Human Genetics, University of California San Francisco

关键词: 15q24 deletion;    Developmental delay;    Diverse populations;    SIN3A;    Witteveen-Kolk syndrome;   

DOI  :  10.1159/000520042

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants in SIN3A. It shares some features with 15q24 deletion syndrome but to date has only been described in a limited number of patients mostly of Northern European ancestry. Here, we report the first patient with Hispanic ancestry to our knowledge diagnosed with WITKOS, who has a novel, truncating variant in the SIN3A gene. Clinical exome sequencing performed in-house using a custom bioinformatics pipeline identified a de novo heterozygous, nonsense variant in SIN3AT (p.Gln339Ter) that has not been previously described in the literature. This 3-year-old boy with WITKOS demonstrated classic features including mild developmental delay and triangular facies with hypotelorism and deep-set, hooded eyes. This patient supports the currently described phenotype for WITKOS in more diverse populations.

【 授权许可】

CC BY