A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Maria F ShuryginaMaria A ParkerCatie L SchlechterRui ChenYumei LiRichard G WeleberPaul YangMark E Pennesi

Published in: BMC ophthalmology (2019)

Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity.

Keyphrases

hearing loss
intellectual disability
case report
copy number
gene expression
autism spectrum disorder
biofilm formation
cystic fibrosis