Back to Search
Start Over
Biallelic loss of EMC10 leads to mild to severe intellectual disability
- Source :
- Annals of Clinical and Translational Neurology; 1080; 1089; 2328-9503; 7; 9; ~Annals of Clinical and Translational Neurology~1080~1089~~~2328-9503~7~9~~
- Publication Year :
- 2022
-
Abstract
- Contains fulltext : 282703.pdf (Publisher’s version ) (Open Access)<br />The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease.
Details
- Database :
- OAIster
- Journal :
- Annals of Clinical and Translational Neurology; 1080; 1089; 2328-9503; 7; 9; ~Annals of Clinical and Translational Neurology~1080~1089~~~2328-9503~7~9~~
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1366886551
- Document Type :
- Electronic Resource