Submission Details

Submitter:

Classification:
Limited
GENCC:100004
Gene:
Disease:
retinitis pigmentosa
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/01/2020
Evidence/Notes:
A heterozygous mutation in ADIPOR1 (c.929A > G) that results in an amino acid substitution (p.Y310C) was identified to co-segregate with retinitis pigmentosa in a Chinese family. The p.Y310C mutation, predicted to affect the structure and function of the protein, was confirmed to affect protein folding and its subcellular localization in vitro. In addition, knockdown of adipor1 expression in a zebrafish model with morpholino (MO) preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP. Furthermore, the knockdown phenotype was partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA.
PubMed IDs:
27655171
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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