Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Anushree AcharyaSyed Irfan RazaMuhammad Zeeshan AnwarThashi BharadwajKhurram LiaqatMuhammad Akram Shahzad KhokharJenna L EverardAbdul Nasirnull nullDeborah A NickersonMichael J BamshadMuhammad AnsarIsabelle SchrauwenWasim AhmadRegie Lyn P Santos-CortezPublished in: Journal of human genetics (2021)
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.
Keyphrases
- aortic valve
- aortic stenosis
- transcatheter aortic valve replacement
- aortic valve replacement
- transcatheter aortic valve implantation
- cell cycle
- intellectual disability
- copy number
- genome wide
- case report
- cell proliferation
- ejection fraction
- heart failure
- hearing loss
- dna methylation
- muscular dystrophy
- glycemic control
- skeletal muscle
- genome wide analysis