Congenital nystagmus

Gene: USP45

Green List (high evidence)

2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.

Created: 25 Oct 2021, 4:49 a.m. | Last Modified: 25 Oct 2021, 4:49 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis; retinal dystrophy

Publications

• 30573563

Comment on list classification: Two unrelated families
Functional studies in animal model recapitulate retinal phenotype

Created: 20 Apr 2020, 3:01 a.m. | Last Modified: 20 Apr 2020, 3:01 a.m.

Panel Version: 0.2364

Green List (high evidence)

2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.

PMID: 30573563 "By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA."
Sources: Literature

Created: 20 Apr 2020, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis; retinal dystrophy

Publications

• 30573563