Congenital nystagmus

Gene: PDE6B

Red List (low evidence)

Two families with CSNB and supportive functional data. However, nystagmus not reported.

Created: 26 Oct 2021, 5:20 a.m. | Last Modified: 26 Oct 2021, 5:20 a.m.

Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500

Publications

• 17044014
• 24760071
• 8075643

Red List (low evidence)

PMID 18854872 In a large consanguineous Tunisian family in which Usher syndrome and RP cosegregated, Hmani-Aifa et al. (2009) found homozygosity for a missense mutation in the PDE6B gene (180072.0007) in individuals with isolated RP. Heterozygous mutation carriers were unaffected. Individuals with Usher syndrome carried a homozygous mutation in the GPR98 gene (602851.0006). One family member who was doubly homozygous for both mutations had a more severe ocular phenotype. Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively.

PMID 8075643 In affected members of a large Danish family, referred to as the Rambusch pedigree, with CSNG linked to chromosome 4p16.3, Gal et al. (1994) identified a heterozygous missense mutation (H258N; 180072.0005) in the PDE6B gene. Gal et al. (1994) hypothesized that the mutation impeded complete inactivation of phosphodiesterase in dark-adapted photoreceptors, thus leading to CSNB.

Created: 25 Oct 2021, 10:14 p.m. | Last Modified: 25 Oct 2021, 10:14 p.m.

Panel Version: 0.89

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa-40 MIM#613801; Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500

Publications

• 18854872
• 8075643

Variants in this GENE are reported as part of current diagnostic practice