Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1

Citation
Fk. Jacobi et al., Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1, HUM GENET, 107(1), 2000, pp. 89-91
Citations number
9
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
107
Issue
1
Year of publication
2000
Pages
89 - 91
Database
ISI
SICI code
0340-6717(200007)107:1<89:PMAEOG>2.0.ZU;2-B
Abstract
X-linked congenital stationary night blindness (CSNB) is a nonprogressive r etinal disorder characterized by impaired night vision, variably involving high myopia, nystagmus, decreased visual acuity, and strabismus. Linkage st udies have identified two distinct loci for X-linked CSNB1 and CSNB2 on the short ann of chromosome X. The gene mutated in families displaying the "in complete phenotype" of CSNB (i.e., CSNB2) has recently been identified. To identify novel candidate genes for the "complete form" of CSNB (i.e., CSNB 1) we screened the physically vast region Xp11.3-Xp11.4 for cDNA sequences. This led us to identify and map the G protein coupled receptor (GPCR) gene GPR34 to Xp11.4 within 650 kb of the marker DXS993. Deletion screening via Southern blotting and direct sequencing of GPR34 revealed no mutations in 19 unrelated men with CSNB1, excluding a causal role in the disease. Howeve r, because of its expression in retinal and neural tissue and the involveme nt of GPCRs in transmembrane signal transduction, GPR34 remains a putative candidate gene for a number of ocular diseases which also map to the Xp11.4 region.