Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type

被引：8

作者：

Reinstein, E. ^{[1
,2
]}

Drasinover, V. ^{[3
]}

Lotan, R. ^{[3
]}

Gal-Tanamy, M. ^{[3
]}

Nachman, I. Bolocan ^{[3
]}

Eyal, E. ^{[4
]}

Jaber, L. ^{[2
,3
]}

Magal, N. ^{[3
]}

Shohat, M. ^{[2
,4
,5
]}

机构：

[1] Meir Med Ctr, Inst Med Genet, 59 Tschrnichovsky, IL-42138 Kefar Sava, Israel

[2] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

[3] Rabin Med Ctr, Inst Med Genet, Petah Tiqwa, Israel

[4] Chaim Sheba Med Ctr, Canc Res Ctr, Tel Hashomer, Israel

[5] Maccabi HMO, Inst Med Genet, Rehovot, Israel

来源：

CLINICAL GENETICS | 2018年 / 93卷 / 01期

关键词：

arthrogryposis multiplex congenita; ERGIC1; exome sequencing; ENDOPLASMIC-RETICULUM; PROTEIN; GENE; PREDICTION; DATABASE; D5S394;

D O I：

10.1111/cge.13018

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than 1 part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with AMC neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter. Using whole exome sequencing, we have now identified homozygous pathogenic variant in the ERGIC1 gene within the previously defined linked region. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi. We further show that this mutation was absent in more than 200 samples of healthy unrelated individuals of the Israeli Arab population. Thus, our findings expand the spectrum of hereditary AMC and suggest that abnormalities in protein trafficking may underlie AMC-related disorders.

引用

页码：160 / 163

页数：4