Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Jotte Rodrigues BentoCandice FebenMarlies KempersMaartje van RijMallory WoiskiKoenraad DevriendtLuc De CatteMarcella BaldewijnsMaaike AlaertsJosephina MeesterAline VerstraetenWilly HendsonBart LoeysPublished in: Molecular genetics & genomic medicine (2021)
The current report presents the first antenatal presentation of a pathogenic KCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth.