De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
A study published in the Human Molecular Genetics identified eight novel loss-of-function variants of KCNMA1. A phenotypic analysis of the patients carrying the recurrent de novo missense loss-of-function variant revealed a novel syndromic neurodevelopmental disorder associated with severe developmental delay, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic dysmorphic features. Patients with other loss-of-function variants presented with neurological and developmental symptoms including developmental delay, intellectual disability, ataxia, axial hypotonia, cerebral atrophy and speech delay/apraxia/dysarthria.
- Hum Mol Genet. 2019 Sep 1;28(17):2937-2951