A homozygous TTN gene variant associated with lethal congenital contracture syndrome. Issue 4 (25th March 2018)

• Record Type: Journal Article
• Authors: Chervinsky, Elena; Khayat, Morad; Soltsman, Sofia; Habiballa, Hatem; Elpeleg, Orly; Shalev, Stavit
• Is Part Of: American journal of medical genetics. Volume 176:Issue 4(2018)
• Page Start: 1001
• Page End: 1005
• Publication Date: 2018-03-25
• Subjects: arthrogryposis -- autosomal recessive -- congenital contracture syndrome -- fetus -- gracile bones -- hydrops -- lethal -- TTN; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38639
• Languages: English
• ISSNs: 1552-4825

Abstract

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.