Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

ABSTRACT:

Background

KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro-intestinal, cardiovascular, and neurological manifestations.

Methods

Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well-known clinical entities.

Results

In an 8-year-old boy presenting with severe aortic dilatation, facial dysmorphism, and overgrowth at birth a de novo p.Gly375Arg KCNMA1 mutation was identified which has been reported previously in association with gingival hypertrophy, aortic dilatation, and developmental delay. Additionally, in a 30-week-old fetus with severe growth retardation and duodenal atresia a de novo p.Pro80

SUBMITTER: Rodrigues Bento J 

PROVIDER: S-EPMC8580096 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature