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Article

A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

American journal of medical genetics. Part A - 1 Apr 2018

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 29575618
DOI: 10.1002/ajmg.a.38639

Genes

TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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