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Abstract #17539 Published in IGR 9-2
Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: Relevance of genetic testing and counseling
Ramprasad VL; George RJ; Sripriya S; Nirmaladevi J; Vijaya L; Kumaramanickavel GOphthalmic Genetics 2007; 28: 17-24
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 D2S177and 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.
Dr. G. Kumaramanickavel, SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, 18, College Road, Sankara Nethralaya, Chennai-600 006, India. gkumarmvel@rediffmail.com
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)