A homozygous TTN gene variant associated with lethal congenital contracture syndrome |
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| Authors: | Elena Chervinsky Morad Khayat Sofia Soltsman Hatem Habiballa Orly Elpeleg Stavit Shalev |
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| Institution: | 1. Genetics Institute, Emek Medical Center, Afula, Israel;2. Maternal Fetal Medicine Outpatient Clinic, Department of Obstetrics and Gynecology, Baruch Padeh Medical Center, Poriya, Israel;3. Faculty of Medicine in the Galilee, Bar‐Ilan University, Safed, Israel;4. Sherutei Briut Sick Fund, Clalit, Ein Mahel, Israel;5. The Monique and Jacques Roboh Department of Genetic Research, Hadassah‐Hebrew University Medical Center, Jerusalem, Israel;6. Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel |
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| 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. |
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| Keywords: | arthrogryposis autosomal recessive congenital contracture syndrome fetus gracile bones hydrops lethal TTN |
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