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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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Date
2016-03-03
Author
Harel, Tamar
YEŞİL, GÖZDE
Bayram, Yavuz
Coban-Akdemir, Zeynep
Charng, Wu-Lin
Karaca, Ender
Al Asmari, Ali
Eldomery, Mohammad K.
Hunter, Jill V.
Jhangiani, Shalini N.
Rosenfeld, Jill A.
Pehlivan, Davut
El-Hattab, Ayman W.
Saleh, Mohammed A.
Leduc, Charles A.
Muzny, Donna
Boerwinkle, Eric
Gibbs, Richard A.
Chung, Wendy K.
Yang, Yaping
Belmont, John W.
Lupski, James R.
Advisor
Type
Article
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Abstract
The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum.
Subject
EMC1
Whole-exome sequencing
cerebellar atrophy
endoplasmic reticulum (ER)
membrane complex
inter-organellar communication
intracellular transport
mitochondrial membrane
neurodegeneration
URI
https://hdl.handle.net/20.500.12645/964
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043/
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BEZMIALEM VAKIF UNIVERSITY

About us |Policies | Library | Contact us | Send Feedback | Sitemap | Admin

Bezmialem Vakıf Üniversitesi, Adnan Menderes Bulvarı Vatan Caddesi 34093 Fatih, İstanbul / TURKEY
Copyright © Bezmialem Vakıf Üniversitesi

Creative Commons Lisansı
Bezmialem Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

OpenAccess@BVU

Support by  UNIREPOS