Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604841 (trait) , 120280 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0011493: Stickler syndrome type 2

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Similar to Stickler syndrome, Type 2 in humans

Species-specific name: Multiocular defect

Species-specific symbol: MOD

Molecular basis: Stanbury et al. (2023) "carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with [multiocular defects]. ... Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three control dogs without evidence of inherited eye disease). Only one of the twenty-two variants segregated correctly with multiocular defect. The variant is a single nucleotide substitution, located in the collagen-type gene COL11A1, c.1775T>C, that causes an amino acid change, p.Phe1592Ser. Genotyping of an additional 14 Old English Sheepdogs affected by multiocular defect revealed a dominant mode of inheritance with four cases heterozygous for the variant. Further genotyping of hereditary cataract-affected Old English Sheepdogs revealed segregation of the variant in eight out of nine dogs."

Clinical features: Stanbury et al. (2023) "Affected dogs typically present with multiple and various ocular abnormalities." These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma.

Breed: Old English Sheepdog (Dog) (VBO_0200969).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: