@article{6d342ee7cab048bd986be10bfdd5ba5e,
title = "ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa",
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.",
keywords = "ADIPOR1, Fatty acid, Next-generation sequencing, Obesity, Retina",
author = "Mingchu Xu and Aiden Eblimit and Jing Wang and Jianli Li and Feng Wang and Li Zhao and Xia Wang and Ningna Xiao and Yumei Li and Wong, {Lee Jun C.} and Lewis, {Richard A.} and Rui Chen",
note = "Funding Information: We thank the patient for participating in our study. We thank the Exome Aggregation Consortium that provided exome variant data. We thank Mr. Justin Branch for revising the manuscript. M.X. and R.C. designed the study. M.X., F.W., and L.Z. analyzed whole-exome sequencing data. A.E. performed IHC experiments and analyzed data. J.W., J.L., X.W., N.X., Y.L., and L.C.W. performed NGS experiments and analyzed data. R.A.L. collected clinical data. M.X., L.C.W., R.A.L., and R.C. drafted the manuscript. All authors critically revised the manuscript, approved the published version, and agreed to be accountable for all aspects of the work. Funding Information: We thank the patient for participating in our study. We thank the Exome Aggregation Consortium that provided exome variant data. We thank Mr. Justin Branch for revising the manuscript. M.X. and R.C. designed the study. M.X., F.W., and L.Z. analyzed whole-exome sequencing data. A.E. performed IHC experiments and analyzed data. J.W., J.L., X.W., N.X., Y.L., and L.C.W. performed NGS experiments and analyzed data. R.A.L. collected clinical data. M.X., L.C.W., R.A.L., and R.C. drafted the manuscript. All authors critically revised the manuscript, approved the published version, and agreed to be accountable for all aspects of the work. Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2016",
month = mar,
day = "1",
doi = "10.1002/humu.22940",
language = "English (US)",
volume = "37",
pages = "246--249",
journal = "Human mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "3",
}