Syndromic Retinopathy

Gene: RDH11

I don't know

2nd case reported: 1 Chinese patient with retinitis pigmentosa, juvenile cataracts, intellectual disability, and myopathy. Trio-based WES and whole genomic CNV detection found compound heterozygous variants in RDH11 (p.Leu313Pro and c.75-3C>A) with biparental inheritance. Variant c.75-3C>A was confirmed to be a splice-site mutation by cDNA sequencing. It caused exon 2 skipping, resulting in a frameshift mutation and premature translation termination (p.Lys26Serfs*38). They found mislocalization of RDH11 protein in muscle cells of the patient by using immunofluorescence staining. Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported.

Created: 15 May 2022, 11:18 p.m. | Last Modified: 15 May 2022, 11:18 p.m.

Panel Version: 0.194

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Retinal dystrophy, juvenile cataracts, and short stature syndrome; OMIM # 616108

Publications

• PMID: 34988992

Red List (low evidence)

Single family reported with compound heterozygous LOF variants segregating with disease in three siblings. Some functional data, but note mouse KO did not have eye phenotype.

Created: 13 Oct 2020, 11:02 p.m. | Last Modified: 13 Oct 2020, 11:02 p.m.

Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108

Publications

• 24916380
• 15634683
• 30731079
• 18326732