Article
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
American journal of human genetics - 5 Sept 2024
Malka Samantha, Biswas Pooja, Berry Anne-Marie, Sangermano Riccardo, Ullah Mukhtar, Lin Siying, D'Antonio Matteo, Jestin Aleksandr, Jiao Xiaodong, Quinodoz Mathieu, Sullivan Lori, Gardner Jessica C, Place Emily M, Michaelides Michel, Kaminska Karolina, Mahroo Omar A, Schiff Elena, Wright Genevieve, Cancellieri Francesca, Vaclavik Veronika, Santos Cristina, Rehman Atta Ur, Mehrotra Sudeep, Azhar Baig Hafiz Muhammad, Iqbal Muhammad, Ansar Muhammad, Santos Luisa Coutinho, Sousa Ana Berta, Tran Viet H, Matsui Hiroko, Bhatia Anjana, Naeem Muhammad Asif, Akram Shehla J, Akram Javed, Riazuddin Sheikh, Ayuso Carmen, Pierce Eric A, Hardcastle Alison J, Riazuddin S Amer, Frazer Kelly A, Hejtmancik J Fielding, Rivolta Carlo, Bujakowska Kinga M, Arno Gavin, Webster Andrew R, Ayyagari Radha
Abstract excerpt
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]), in individuals of South Asian and African ancestry, respectively. Genotypes included 71 homozygotes and 3 mixed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.