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Article

A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.

American journal of medical genetics. Part A - 1 Mar 2025

Saijo Naoya, Yaoita Hisao, Takayama Jun, Ota Chiharu, Kawai Eiichiro, Kimura Masato, Ozawa Akira, Tamiya Gen, Kure Shigeo, Kikuchi Atsuo

Abstract excerpt

Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported TMEM260 (NM_017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (TMEM260...

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Identifiers

PMID: 39425509
DOI: 10.1002/ajmg.a.63906

Genes

TMEM260

Variants

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

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A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.PMID 39425509Read ↗

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