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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa
Author(s) -
Xu Mingchu,
Eblimit Aiden,
Wang Jing,
Li Jianli,
Wang Feng,
Zhao Li,
Wang Xia,
Xiao Ningna,
Li Yumei,
Wong LeeJun C.,
Lewis Richard A.,
Chen Rui
Publication year - 2016
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22940
Subject(s) - retinitis pigmentosa , biology , frameshift mutation , genetics , exome sequencing , genetic heterogeneity , gene , mutation , phenotype , retinal disorder , retinal degeneration , retina , bioinformatics , neuroscience
ABSTRACT Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disorder. Despite the numerous genes associated with RP already identified, the genetic basis remains unknown in a substantial number of patients and families. In this study, we performed whole‐exome sequencing to investigate the molecular basis of a syndromic RP case that cannot be solved by mutations in known disease‐causing genes. After applying a series of variant filtering strategies, we identified an apparently homozygous frameshift mutation, c.31delC (p.Q11Rfs*24) in the ADIPOR1 gene. The reported phenotypes of Adipor1 ‐null mice contain retinal dystrophy, obesity, and behavioral abnormalities, which highly mimic those in the syndromic RP patient. We further confirmed ADIPOR1 retina expression by immunohistochemistry. Our results established ADIPOR1 as a novel disease‐causing gene for syndromic RP and highlight the importance of fatty acid transport in the retina.