Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Ann Clin Transl Neurol
; 9(7): 1080-1089, 2022 07.
Article
em En
| MEDLINE
| ID: mdl-35684946
ABSTRACT
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Transtornos do Neurodesenvolvimento
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Proteínas de Membrana
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Deficiência Intelectual
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article