Table 1.

Clinical features of the syndromic RP patient and genetic evidence supporting ADIPOR1 as the disease-causing gene.

Patient age, sex and ethnicity	27-year-old male; South Asian
Ocular phenotypes	Extensive pigmentary retinopathy; tunnel vision; cataracts; advanced waxy optic nerve pallor
Neurological phenotypes	Intellectual disability; speech delay
Other phenotypes	Truncal obesity; flat feet
Number of known RD (including BBS) genes screened	226 (Supp. Table S1)
Control databases for variant frequency filtering	ExAC; CHARGE consortium; NHLBI-ESP-6500; 1K Genome Project (See Supplementary Material for details)
ADIPOR1 variant information	NM_015999.5: c.31delC (p.Q11Rfs*24) (Homozygous) Absent in control databases
AOH region covering the ADIPOR1 mutation	Chr1: 202544307 – 204103714 (1.56 Mb)

RD, retinal disease; BBS, Bardet-Biedl syndrome; AOH, absence of heterozygosity. ExAC, exome aggregation consortium; CHARGE, Cohorts for Heart and Aging Research in Genomic Epidemiology; NHLBI-ESP, National Heart, Lung, and Blood Institute Grand Opportunities Exome Sequencing Project. Genome coordinates were based on human hg19 genome. Nucleotide numbering uses +1 as the A of the ATG translation initiation codon in the reference sequence, with the initiation codon as codon 1.