Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clinical genetics - 1 Jan 2022
Pagnamenta Alistair T, Jackson Adam, Perveen Rahat, Beaman Glenda, Petts Gemma, Gupta Asheeta, Hyder Zerin, Chung Brian Hon-Yin, Kan Anita Sik-Yau, Cheung Ka Wang, Kerstjens-Frederikse Wilhelmina S, Abbott Kristin M, Elpeleg Orly, Taylor Jenny C, Banka Siddharth, Ta-Shma Asaf
Abstract excerpt
Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Variants included one multi-exon deletion, four nonsense/frameshifts, two splicing changes and one missense change....
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