A homozygous TTN gene variant associated with lethal congenital contracture syndrome

Elena Chervinsky; Morad Khayat; Sofia Soltsman; Hatem Habiballa; Orly Elpeleg; Stavit Shalev

doi:10.1002/ajmg.a.38639

A homozygous TTN gene variant associated with lethal congenital contracture syndrome

Elena Chervinsky
, Morad Khayat
, Sofia Soltsman
, Hatem Habiballa
, Orly Elpeleg
, Stavit Shalev

Bar-Ilan University - Azrieli Faculty of Medicine

Emek Medical Center
Poriya Medical Center
Sherutei Briut Sick Fund
Hadassah University Medical Centre
Technion-Israel Institute of Technology

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1001-1005
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	176
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.38639
State	Published - Apr 2018

Bibliographical note

Publisher Copyright:
© 2018 Wiley Periodicals, Inc.

Keywords

TTN
arthrogryposis
autosomal recessive
congenital contracture syndrome
fetus
gracile bones
hydrops
lethal

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10.1002/ajmg.a.38639

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AU - Khayat, Morad

AU - Soltsman, Sofia

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AU - Elpeleg, Orly

AU - Shalev, Stavit

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AB - 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.

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A homozygous TTN gene variant associated with lethal congenital contracture syndrome

Abstract

Bibliographical note

Keywords

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