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PubMed (GeneRIF) for id: 54916

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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.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. J Hum Genet. 2024 May;69(5):215-222. doi: 10.1038/s10038-024-01225-w. Epub 2024 Feb 26. J Hum Genet. 2024. PMID: 38409496 Free PMC article.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A. Larsen ISB, et al. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. doi: 10.1073/pnas.2302584120. Epub 2023 May 15. Proc Natl Acad Sci U S A. 2023. PMID: 37186866 Free PMC article.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium; Elpeleg O, Taylor JC, Banka S, Ta-Shma A. Pagnamenta AT, et al. Clin Genet. 2022 Jan;101(1):127-133. doi: 10.1111/cge.14071. Epub 2021 Oct 11. Clin Genet. 2022. PMID: 34612517