Skip to main content
. Author manuscript; available in PMC: 2017 Apr 6.
Published in final edited form as: Hum Mutat. 2016 Jan 6;37(3):246–249. doi: 10.1002/humu.22940

Figure 1. Genetic findings in the syndromic RP patient and ADIPOR1 immunohistochemistry.

Figure 1

A. A homozygous frameshift variant c.31delC (p.Q11Rfs*24) in ADIPOR1 (NM_015999.5) was identified and Sanger sequencing confirmed its identity. Nucleotide numbering uses +1 as the A of the ATG translation initiation codon in the reference sequence, with the initiation codon as codon 1.

B. Immunohistochemistry showed ADIPOR1 expresses in photoreceptor and RPE cells. ONL, outer nuclear layer; OS, outer segments; IS, inner segments; OPL, outer plexiform layer; INL, inner nuclear layer. Scale bar, 20μm.

HHS Vulnerability Disclosure