{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Inoue T"],"funding":["MEXT | Japan Society for the Promotion of Science","MEXT | Japan Society for the Promotion of Science (JSPS)","Japan Agency for Medical Research and Development","the 8th Miyata Foundation Award, the Japanese Society of Pediatric Cardiology and Cardiac Surgery Research Encouragement Award, and a research Grant of Morinaga Service Foundation","Japan Agency for Medical Research and Development (AMED)"],"pagination":["215-222"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11043032"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["69(5)"],"pubmed_abstract":["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 tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del of TMEM260 has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of "],"journal":["Journal of human genetics"],"pubmed_title":["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."],"pmcid":["PMC11043032"],"funding_grant_id":["JP23H02881","JP22H03045","JP20ek0109487","JP19H03622","JP23K07275","JP19K08352"],"pubmed_authors":["Inoue T","Yamagishi H","Yoshiura KI","Watanabe Y","Furutani Y","Takase R","Muneuchi J","Akagawa H","Suda K","Uchida K","Ishizaki R","Kunimatsu M","Azuma K","Inai K","Kodo K"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"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 tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del of TMEM260 has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-07-15T08:21:24.473Z","creation":"2025-04-06T03:14:41.822Z"},"accession":"S-EPMC11043032","cross_references":{"pubmed":["38409496"],"doi":["10.1038/s10038-024-01225-w"]}}