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.

• Authors: Mingchu Xu, Aiden Eblimit, Jing Wang, Jianli Li, Feng Wang, Li Zhao, Xia Wang, Ningna Xiao, Yumei Li, Lee-Jun C Wong, Richard A Lewis, Rui Chen
• Journal: Human mutation (Hum Mutat) Vol. 37 Issue 3 Pg. 246-9 (Mar 2016) ISSN: 1098-1004 [Electronic] United States
• PMID: 26662040 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 WILEY PERIODICALS, INC.

Chemical References

• ADIPOR1 protein, human
• Receptors, Adiponectin

Topics

• Adult
• Animals
• Exome (genetics)
• Female
• Frameshift Mutation (genetics)
• Humans
• Male
• Mice
• Mutation (genetics)
• Receptors, Adiponectin (genetics)
• Retinitis Pigmentosa (genetics)
• Young Adult