Familial Cavitary Optic Dik Anomalie: Identification of a Novel Genetic Locu Original Reearch Article

Purpoe To identify the chromoomal location of the gene involved in the pathogenei of cavitary optic dik anomalie in a large pedigree with autoomal dominant inheritance of dieae. Deign Linkage analyi of a pedigree affected with cavitary optic dik anomalie. Method Optic dik photograph were examined for the preence of cavitary optic dik anomalie. ixteen affected family member and one obligate carrier were identified and tudied with linkage analyi uing both microarray of ingle nucleotide polymorphim (NP) and hort tandem repeat polymorphim (TRP) marker. Reult Multipoint linkage analyi of NP genotype yielded a maximum nonparametric logarithm of the odd (LOD) core of 21.7 with marker located on chromoome 12q. Linkage wa confirmed with 16 TRP marker in the 12q region. A maximum two-point LOD core of 4.06 (θ = 0) wa obtained with marker D121700. The dieae interval defined by oberved recombinant i 9.1 cM, which correpond to 13.5 Mbp. Three candidate gene (GDF-11, NEUROD4, and WIF1) in the chromoome 12q locu were evaluated a poible dieae-cauing gene. No mutation were detected in the coding equence of thee gene. Concluion The dicovery of the chromoomal location of a gene reponible for cavitary optic dik anomalie i a key tep in identifying the genetic bai of thi condition and ultimately may provide important inight into the pathogenei of more common optic nerve dieae uch a normal-tenion glaucoma and primary open-angle glaucoma (POAG).