title: Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.
abstract: The genetic background of congenital glaucoma in a consanguineous south Indian family was examined by homozygosity analyses. Significant evidence for the homozygosity of alleles was detected for markers D2S177 and D2S1346 that are tightly linked to the CYP1B1 gene, and further involvement of this gene was confirmed by the co-segregation of a novel truncating mutation (Q110X) in exon 2 with the disease in all affected members. Newborn genetic screening and carrier identification were also performed in the family. The role of consanguinity and the risk of autosomal recessive disease were discussed and genetic counseling was given.
authors: SN ONGC Department of Genetics & Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
authors: Vedam Lakshmi
authors: VL
authors: Ramprasad
authors: Ronnie J
authors: RJ
authors: George
authors: Sarangapani
authors: S
authors: Sripriya
authors: J
authors: J
authors: Nirmaladevi
authors: Lingam
authors: L
authors: Vijaya
authors: Govindasamy
authors: G
authors: Kumaramanickavel
mesh_terms: D000328:Adult; D000368:Aged; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D002648:Child; D003241:Consanguinity; D065633:Cytochrome P-450 CYP1B1; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics* / Q000517:prevention & control; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009216:Myopia / Q000151:congenital / Q000378:metabolism; D010375:Pedigree; D019683:Penetrance
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1