Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.

ABSTRACT: Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia. MCM3AP encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. In this study, we report a novel variant in MCM3AP (p.Ile954Thr), in a family including three affected individuals with characteristic features of Charcot-Marie-Tooth neuropathy and multiple sclerosis, an inflammatory condition of the central nervous system without known genetic cause. The affected individuals were homozygous for a m

SUBMITTER: Sedghi M 

PROVIDER: S-EPMC7425404 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature