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
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.