Intellectual disability update Jan 2018

Gene: KIAA1109

Green List (high evidence)

OMIM has been updated and the phenotype is now Alkuraya-Kucinskas syndrome 617822

Created: 5 Feb 2018, 5:01 p.m.

Not associated with phenotype in OMIM, but as a probable gene for Brain atrophy, Dandy Walker and Contractures in G2P. In PMID 29290337 at least 12 variants have been identified in 13 cases from 10 unrelated families. The majority of cases were incompatible with life and only three individuals survived (compound heterozygotes for less pathogenic variants), these all had global developmental delay, with varying degrees of intellectual disability. Animal models were supportive for the effect of KIAA1109 variants on impaired brain development (PMID 29290337).

Created: 2 Jan 2018, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome 617822

Publications

• 25558065
• 29290337