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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and mice are lethal in the embryonic period, suggesting that possible retinitis...

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Hoofdauteurs: Yan Ma, Xun Wang, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L. Baple, James Fasham, Raheela Nadeem, Muhammad Asif Naeem, Sheikh Riazuddin, S. Amer Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2022-03-01
Reeks:Frontiers in Genetics
Onderwerpen:
retinitis pigmenstosa
CLCC1
haplotype analysis
mutation age estimate
Pakistan
founder mutation
Online toegang:https://www.frontiersin.org/articles/10.3389/fgene.2022.804924/full
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