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Article

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

Journal of human genetics - 1 Oct 2021

Acharya Anushree, Raza Syed Irfan, Anwar Muhammad Zeeshan, Bharadwaj Thashi, Liaqat Khurram, Khokhar Muhammad Akram Shahzad, Everard Jenna L, Nasir Abdul, Nickerson Deborah A, Bamshad Michael J, Ansar Muhammad, Schrauwen Isabelle, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

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,...

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Identifiers

PMID: 33879837
DOI: 10.1038/s10038-021-00922-0
PMCID: PMC8472924

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