Article
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
American journal of human genetics - 1 Feb 2024
Bauwens Miriam, Celik Elifnaz, Zur Dinah, Lin Siying, Quinodoz Mathieu, Michaelides Michel, Webster Andrew R, Van Den Broeck Filip, Leroy Bart P, Rizel Leah, Moye Abigail R, Meunier Audrey, Tran Hoai Viet, Moulin Alexandre P, Mahieu Quinten, Van Heetvelde Mattias, Arno Gavin, Rivolta Carlo, De Baere Elfride, Ben-Yosef Tamar
Abstract excerpt
Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod Homeobox (CRX). Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction. Four of these mutations affect splicing, while another...
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