Annals of Clinical and Translational Neurology (Jul 2022)
Biallelic loss of EMC10 leads to mild to severe intellectual disability
- Rauan Kaiyrzhanov,
- Clarissa Rocca,
- Mohnish Suri,
- Sughra Gulieva,
- Maha S. Zaki,
- Noa Z. Henig,
- Karine Siquier,
- Ulviyya Guliyeva,
- Samir M. Mounir,
- Daphna Marom,
- Aynur Allahverdiyeva,
- Hisham Megahed,
- Hans vanBokhoven,
- Vincent Cantagrel,
- Aboulfazl Rad,
- Alemeh Pourkeramti,
- Boshra Dehghani,
- Diane D. Shao,
- Keren Markus‐Bustani,
- Efrat Sofrin‐Drucker,
- Naama Orenstein,
- Kamran Salayev,
- Filippo Arrigoni,
- Henry Houlden,
- Reza Maroofian
Affiliations
- Rauan Kaiyrzhanov
- Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK
- Clarissa Rocca
- Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK
- Mohnish Suri
- Clinical Genetics Service Nottingham University Hospitals NHS Trust Nottingham UK
- Sughra Gulieva
- MediClub Hospital 45, Uzeyir Hajibeyli str. Baku AZ1010 Azerbaijan
- Maha S. Zaki
- Human Genetics and Genome Research Division, Clinical Genetics Department National Research Centre Cairo Egypt
- Noa Z. Henig
- Genetics Institute Tel Aviv Sourasky Medical Center Tel Aviv Israel
- Karine Siquier
- Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR Université Paris Cité Paris France
- Ulviyya Guliyeva
- MediClub Hospital 45, Uzeyir Hajibeyli str. Baku AZ1010 Azerbaijan
- Samir M. Mounir
- Pediatrics Department, Faculty of Medicine El‐Minia University Minia Egypt
- Daphna Marom
- Genetics Institute Tel Aviv Sourasky Medical Center Tel Aviv Israel
- Aynur Allahverdiyeva
- Child Neurology Hospital Taghi Shahbazi str. Baku AZ1065 Azerbaijan
- Hisham Megahed
- Clinical Genetics Department National Research Centre Cairo Egypt
- Hans vanBokhoven
- Deparment of Human Genetics, Donders Center for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen the Netherlands
- Vincent Cantagrel
- Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR Université Paris Cité Paris France
- Aboulfazl Rad
- Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre Eberhard Karls University Tübingen 72076 Germany
- Alemeh Pourkeramti
- Medical Biotechnology Research Center Ashkezar University Ashkezar Yazd Iran
- Boshra Dehghani
- Medical Biotechnology Research Center Ashkezar University Ashkezar Yazd Iran
- Diane D. Shao
- Department of Neurology Boston Children's Hospital Boston Massachusetts USA
- Keren Markus‐Bustani
- Raphael Recanati Genetic Institute, Rabin Medical Center‐Beilinson Hospital Petach Tikva Israel
- Efrat Sofrin‐Drucker
- Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
- Naama Orenstein
- Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
- Kamran Salayev
- Department of Neurology Azerbaijan Medical University Baku Azerbaijan
- Filippo Arrigoni
- Paediatric Radiology and Neuroradiology Department V. Buzzi Children's Hospital Milan Italy
- Henry Houlden
- Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK
- Reza Maroofian
- Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK
- DOI
- https://doi.org/10.1002/acn3.51602
- Journal volume & issue
-
Vol. 9,
no. 7
pp. 1080 – 1089
Abstract
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.
