Biallelic loss of EMC10 leads to mild to severe intellectual disability

© 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association..

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2022

Erschienen:

2022

Enthalten in:

Zur Gesamtaufnahme - volume:9

Enthalten in:

Annals of clinical and translational neurology - 9(2022), 7 vom: 08. Juli, Seite 1080-1089

Sprache:

Englisch

Beteiligte Personen:

Kaiyrzhanov, Rauan [VerfasserIn]
Rocca, Clarissa [VerfasserIn]
Suri, Mohnish [VerfasserIn]
Gulieva, Sughra [VerfasserIn]
Zaki, Maha S [VerfasserIn]
Henig, Noa Z [VerfasserIn]
Siquier, Karine [VerfasserIn]
Guliyeva, Ulviyya [VerfasserIn]
Mounir, Samir M [VerfasserIn]
Marom, Daphna [VerfasserIn]
Allahverdiyeva, Aynur [VerfasserIn]
Megahed, Hisham [VerfasserIn]
van Bokhoven, Hans [VerfasserIn]
Cantagrel, Vincent [VerfasserIn]
Rad, Aboulfazl [VerfasserIn]
Pourkeramti, Alemeh [VerfasserIn]
Dehghani, Boshra [VerfasserIn]
Shao, Diane D [VerfasserIn]
Markus-Bustani, Keren [VerfasserIn]
Sofrin-Drucker, Efrat [VerfasserIn]
Orenstein, Naama [VerfasserIn]
Salayev, Kamran [VerfasserIn]
Arrigoni, Filippo [VerfasserIn]
Houlden, Henry [VerfasserIn]
Maroofian, Reza [VerfasserIn]

Links:

Volltext

Themen:

EMC10 protein, human
Journal Article
Membrane Proteins
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Anmerkungen:

Date Completed 12.07.2022

Date Revised 07.12.2022

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1002/acn3.51602

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM342066447