Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

ABSTRACT: Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy. Three individuals from two unrelated families have either a homozygous deleterious variant (c.145delG [p.Glu49Argfs^∗14]) or compound-heterozygous variants (c.360dupC [p.Glu121Argfs^∗7] and c.1880C>T [p. Ala627Val]). The clinical phenotypes of the three individuals are

SUBMITTER: Milev MP 

PROVIDER: S-EPMC5544387 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature