A homozygous TTN gene variant associated with lethal congenital contracture syndrome

被引：16

作者：

Chervinsky, Elena ^{[1
]}

Khayat, Morad ^{[1
]}

Soltsman, Sofia ^{[2
,3
]}

Habiballa, Hatem ^{[4
]}

Elpeleg, Orly ^{[5
]}

Shalev, Stavit ^{[1
,6
]}

机构：

[1] Emek Med Ctr, Genet Inst, IL-18101 Afula, Israel

[2] Baruch Padeh Med Ctr, Dept Obstet & Gynecol, Maternal Fetal Med Outpatient Clin, Poriya, Israel

[3] Bar Ilan Univ, Fac Med Galilee, Safed, Israel

[4] Sherutei Briut Sick Fund, Clalit, Ein Mahel, Israel

[5] Hadassah Hebrew Univ, Monique & Jacques Roboh Dept Genet Res, Med Ctr, Jerusalem, Israel

[6] Technion Israel Inst Technol, Rappaport Fac Med, Haifa, Israel

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 04期

关键词：

arthrogryposis; autosomal recessive; congenital contracture syndrome; fetus; gracile bones; hydrops; lethal; TTN; ARTHROGRYPOSIS MULTIPLEX CONGENITA; MYOPATHY; MUTATIONS; SKELETAL;

D O I：

10.1002/ajmg.a.38639

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congenital contracture syndrome. Using exome sequencing, we identified a homozygous c.36122delC (p. P12041Lfs*20) variant in exon 167 in the fetal IC isoform of TTN. The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis.

引用

页码：1001 / 1005

页数：5

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