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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Acharya, A ; Sharif University of Technology | 2021

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  1. Type of Document: Article
  2. DOI: 10.1038/s10038-021-00922-0
  3. Publisher: Springer Nature , 2021
  4. Abstract:
  5. 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)
  6. Keywords:
  7. Autosomal dominant inheritance ; Bicuspid aortic valve ; Clinical assessment ; Clinodactyly ; Wolfram syndrome ; Whole exome sequencing ; Thrombocyte aggregation ; Single cell RNA seq ; Sanger sequencing ; Congenital heart malformation ; Consanguineous marriage ; Developmental disorder ; Diabetes insipidus ; Diabetes mellitus ; Face dysmorphia ; Gastrointestinal disease ; Gene expression ; Hearing impairment ; Optic nerve atrophy ; Molecular pathology ; Missense mutation ; Heart septum defect ; Homozygosity
  8. Source: Journal of Human Genetics ; Volume 66, Issue 10 , 2021 , Pages 1009-1018 ; 14345161 (ISSN)
  9. URL: https://www.nature.com/articles/s10038-021-00922-0