Article
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Human genetics - 1 Aug 2021
Janecke Andreas R, Liu Xiaoqin, Adam Rüdiger, Punuru Sumanth, Viestenz Arne, Strauß Valeria, Laass Martin, Sanchez Elizabeth, Adachi Roberto, Schatz Martha P, Saboo Ujwala S, Mittal Naveen, Rohrschneider Klaus, Escher Johanna, Ganesh Anuradha, Al Zuhaibi Sana, Al Murshedi Fathiya, AlSaleem Badr, Alfadhel Majid, Al Sinani Siham, Alkuraya Fowzan S, Huber Lukas A, Müller Thomas, Heidelberger Ruth, Janz Roger
Abstract excerpt
Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism...
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