Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Human genetics - 1 Dec 2019
Horga Alejandro, Woodward Catherine E, Mills Alberto, Pareés Isabel, Hargreaves Iain P, Brown Ruth M, Bugiardini Enrico, Brooks Tony, Manole Andreea, Remzova Elena, Rahman Shamima, Reilly Mary M, Houlden Henry, Sweeney Mary G, Brown Garry K, Polke James M, Gago Federico, Parton Matthew J, Pitceathly Robert D S, Hanna Michael G
Abstract excerpt
Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females. Here, we report the first set of monozygotic twin females with PDC deficiency, caused by a novel, de novo heterozygous missense mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.