Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
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DOI：
10.1002/acn3.51602
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发表时间：
2022-07
影响因子：
5.3
通讯作者：
Maroofian, Reza
中科院分区：
文献类型：
--
作者：
Kaiyrzhanov, Rauan;Rocca, Clarissa;Suri, Mohnish;Gulieva, Sughra;Zaki, Maha S.;Henig, Noa Z.;Siquier, Karine;Guliyeva, Ulviyya;Mounir, Samir M.;Marom, Daphna;Allahverdiyeva, Aynur;Megahed, Hisham;van Bokhoven, Hans;Cantagrel, Vincent;Rad, Aboulfazl;Pourkeramti, Alemeh;Dehghani, Boshra;Shao, Diane D.;Markus-Bustani, Keren;Sofrin-Drucker, Efrat;Orenstein, Naama;Salayev, Kamran;Arrigoni, Filippo;Houlden, Henry;Maroofian, Reza
内质网膜蛋白复合物亚基10（EMC10）是一种高度保守的蛋白质，负责将尾锚定膜蛋白翻译后插入内质网中。EMC10中的两个双等位基因变体先前与神经发育障碍相关。利用外显子组测序和国际数据共享，我们从6个独立的家庭中确定了10个受影响的个体，其中5个新的双等位基因功能丧失和1个先前报告的复发性EMC10变体。本报告扩展了EMC10缺陷的分子和临床谱，提供了全面的畸形评估，并强调了EMC10和EMC1相关疾病的临床特征之间的重叠。
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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影响因子：
9.8
作者：
Harel, Tamar;Yesil, Gozde;Lupski, James R.
通讯作者：
Lupski, James R.
影响因子：
37.8
作者：
Reboll, Marc R.;Korf-Klingebiel, Mortimer;Wollert, Kai C.
通讯作者：
Wollert, Kai C.
ER膜蛋白复合物是跨膜结构域插入酶。
DOI：
10.1126/science.aao3099
发表时间：
2018-01-26
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Guna A;Volkmar N;Christianson JC;Hegde RS
通讯作者：
Hegde RS
影响因子：
64.8
作者：
Dickinson ME;Flenniken AM;Ji X;Teboul L;Wong MD;White JK;Meehan TF;Weninger WJ;Westerberg H;Adissu H;Baker CN;Bower L;Brown JM;Caddle LB;Chiani F;Clary D;Cleak J;Daly MJ;Denegre JM;Doe B;Dolan ME;Edie SM;Fuchs H;Gailus-Durner V;Galli A;Gambadoro A;Gallegos J;Guo S;Horner NR;Hsu CW;Johnson SJ;Kalaga S;Keith LC;Lanoue L;Lawson TN;Lek M;Mark M;Marschall S;Mason J;McElwee ML;Newbigging S;Nutter LM;Peterson KA;Ramirez-Solis R;Rowland DJ;Ryder E;Samocha KE;Seavitt JR;Selloum M;Szoke-Kovacs Z;Tamura M;Trainor AG;Tudose I;Wakana S;Warren J;Wendling O;West DB;Wong L;Yoshiki A;International Mouse Phenotyping Consortium;Jackson Laboratory;Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS);Charles River Laboratories;MRC Harwell;Toronto Centre for Phenogenomics;Wellcome Trust Sanger Institute;RIKEN BioResource Center;MacArthur DG;Tocchini-Valentini GP;Gao X;Flicek P;Bradley A;Skarnes WC;Justice MJ;Parkinson HE;Moore M;Wells S;Braun RE;Svenson KL;de Angelis MH;Herault Y;Mohun T;Mallon AM;Henkelman RM;Brown SD;Adams DJ;Lloyd KC;McKerlie C;Beaudet AL;Bućan M;Murray SA
通讯作者：
Murray SA
影响因子：
2
作者：
Geetha TS;Lingappa L;Jain AR;Govindan H;Mandloi N;Murugan S;Gupta R;Vedam R
通讯作者：
Vedam R