期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 9, 期 7, 页码 1080-1089出版社
WILEY
DOI: 10.1002/acn3.51602
关键词
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资金
- Wellcome Trust [WT093205MA, WT104033AIA, 165908]
- Medical Research Council (MRC) [MR/S01165X/1, MR/S005021/1, G0601943]
- National Institute of Neurological Disorders and Stroke (NINDS) Neurology Resident Research Education Program [R25 NS070682]
This study identifies the association between EMC10 deficiency and neurodevelopmental disorders through gene sequencing and data sharing, expands the molecular and clinical spectrum of EMC10 deficiency, and reveals the clinical feature overlap between EMC10 and EMC1-related diseases.
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.
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