Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Khurram LiaqatThashi BharadwajKhadim Shah Abdul NasirAnushree AcharyaSaadullah KhanIrfan UllahIsabelle SchrauwenWasim AhmadSuzanne M Leal

Published in: Clinical genetics (2023)

A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
genome wide
case report
multiple sclerosis
genome wide identification
gene expression
dna methylation
low birth weight