1. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
- Author
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Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, and Leal SM
- Subjects
- Adolescent, Adult, Bicuspid Aortic Valve Disease genetics, Bicuspid Aortic Valve Disease pathology, Child, Child, Preschool, Consanguinity, Deafness complications, Deafness pathology, Diabetes Mellitus genetics, Female, Gastrointestinal Tract abnormalities, Gastrointestinal Tract metabolism, Gastrointestinal Tract pathology, Hearing Loss, Homozygote, Humans, Infant, Male, Mutation, Missense genetics, Optic Atrophy complications, Optic Atrophy pathology, Wolfram Syndrome complications, Wolfram Syndrome epidemiology, Wolfram Syndrome pathology, Young Adult, CDC2 Protein Kinase genetics, Deafness genetics, Genetic Predisposition to Disease, Optic Atrophy genetics, Wolfram Syndrome genetics
- Abstract
Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2., Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes., Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously associated with autosomal dominant congenital heart defects, dysmorphic facial features, clinodactyly, gastrointestinal tract abnormalities, intellectual developmental disorder, and seizures with variable phenotypic features., Conclusion: We report a homozygous variant in CDK13 and suggest that this gene causes an autosomal recessive disorder with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities., (© 2021. The Author(s).)
- Published
- 2021
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