Hearing lossGene: PIK3C2A
Associated with Oculoskeletodental syndrome 618440 (AR) in OMIM based on evidence from PMID: 31034465 - Tiosano et al 2019 - report 5 individuals from 3 unrelated consanguineous families with a similar set of clinical features including dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts. 3 out 5 indviduals (one from each family) showed hearing loss (non-progressive hearing deficiency, bilateral moderate conductive hearing loss and sensorineural hearing loss, hearing aids at 22 years old). Homozygous loss-of-function mutations in PIK3C2A were identified in each family.
Created: 15 Nov 2019, 12:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Oculoskeletodental syndrome 618440
gene: PIK3C2A was added gene: PIK3C2A was added to Hearing loss. Sources: Literature Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440 Review for gene: PIK3C2A was set to AMBER