Kaiyrzhanov, R;
Rocca, C;
Suri, M;
Gulieva, S;
Zaki, MS;
Henig, NZ;
Siquier, K;
... Maroofian, R; + view all
(2022)
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Annals of Clinical and Translational Neurology
10.1002/acn3.51602.
(In press).
Preview |
Text
Ann Clin Transl Neurol - 2022 - Kaiyrzhanov - Biallelic loss of EMC10 leads to mild to severe intellectual disability.pdf - Published Version Download (3MB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Biallelic loss of EMC10 leads to mild to severe intellectual disability |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/acn3.51602 |
| Publisher version: | https://doi.org/10.1002/acn3.51602 |
| Language: | English |
| Additional information: | © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10150444 |
Archive Staff Only
 |
View Item |
