EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

ABSTRACT: In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in GDD and ID. Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders. EMC10 is a bone marrow-derived angiogenic growth factor that plays an important role in infarct vascularization and promoting tissue repair. However, this gene has not been previously associated with human disease. Herein, we describe a Saudi family with two individuals segregating a recessive neurodevelopmental disorder. Both of the affected individuals showed mild ID, speech d

SUBMITTER: Umair M 

PROVIDER: S-EPMC7756316 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature