1. A Novel Variant in VPS13B Underlying Cohen Syndrome.
- Author
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Hussain, Abrar, Acharya, Anushree, Bharadwaj, Thashi, Genomics, University Of Washington Center For Mendelian, Leal, Suzanne M., Khaliq, Abdul, Mir, Asif, and Schrauwen, Isabelle
- Subjects
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SEQUENCE analysis , *HUMAN research subjects , *GENETIC variation , *INFORMED consent (Medical law) , *BIOINFORMATICS , *CAPILLARY electrophoresis , *MULTIPLE human abnormalities , *SLEEP disorders , *CHILD psychopathology , *DESCRIPTIVE statistics , *RESEARCH funding , *GENETIC counseling , *PHENOTYPES - Abstract
Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. We used whole exome and Sanger sequencing to identify disease-causing variants in a Pakistani family with intellectual disability, microcephaly, facial dysmorphism, neutropenia, truncal obesity, speech delay, motor delay, and insomnia. We identified a novel homozygous nonsense variant c.8841G > A: p.(W2947 ∗ ) in VPS13B (NM_017890.5) which segregated with the disease. Sleep disturbances are commonly seen in neurodevelopmental disorders and can exacerbate medical issues if left untreated. We demonstrate that individuals with Cohen syndrome may also be affected by sleep disturbances. In conclusion, we expand the genetic and phenotypic features of Cohen syndrome in the Pakistani population. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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