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Article

The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Journal of human genetics - 1 May 2024

Inoue Tadashi, Takase Ryuta, Uchida Keiko, Kodo Kazuki, Suda Kenji, Watanabe Yoriko, Yoshiura Koh-Ichiro, Kunimatsu Masaya, Ishizaki Reina, Azuma Kenko, Inai Kei, Muneuchi Jun, Furutani Yoshiyuki, Akagawa Hiroyuki, Yamagishi Hiroyuki

Abstract excerpt

Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow...

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Identifiers

PMID: 38409496
DOI: 10.1038/s10038-024-01225-w
PMCID: PMC11043032

Genes

TMEM260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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