Open access
XXYLT1 and Mendelian Retinal Dystrophy
Minna Kraatari-Tiri
Hina Ishtiaq
J. Tyrmi
Siying Lin
Andriana Valkama
T. Tiirikka
Sara Äikäs
Laura Lähteenoja
G. Wright
Elena R. Schiff
Aleksandr Jestin
A. Webster
Omar A. Mahroo
M. Michaelides
J. Moilanen
K. Pylkäs
Johannes Kettunen
Gavin Arno
Aura Falck
T. Mantere
E. Rahikkala
Medicine
Abstract
Key Points Question Can a genome-wide association study (GWAS) approach be used to identify genes associated with inherited retinal disease (IRD)? Findings Using a recessive model, this GWAS identified 13 loci (9 known and 4 previously unknown putative loci) with genome-wide significance. One of the identified genes, XXYLT1, was confirmed as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts; an XXYLT1 c.505-1G>C founder variant showed a loss-of-function effect. Meaning These findings support the need to include XXYLT1 in clinical IRD gene panels.