A Novel Mutation in TIGR/MYOC Gene in a Colombian Individual with Juvenile Glaucoma

Abstract

Abstract: : Purpose: To expand description of TIGR/MYOC mutation involvement in glaucoma in additional populations around the world. Here we describe a novel mutation on the trabecular meshwork inducible glucorticoid response protein (TIGR/MYOC) in a Colombian subject with juvenile glaucoma (JG). Methods: A total of 47 unrelated subjects of Caucasian, Hispanic and African ancestries with juvenile glaucoma or adult onset POAG were screened for mutations in TIGR/MYOC. One individual from Ghana with ocular hypertension was also screened. Screening was carried out using PCR amplification from genomic DNA and ABI 377 sequencing technology. All three exons were screened. Studies of additional family members are ongoing. Results: Mutations were found in 7 unreleated subjects, including a Glu352Lys mutation in a Ghanaian individual with ocular hypertension. A novel mutation was identified in exon 3 in a Colombian adult with juvenile glaucoma. This mutation, an G to A transition at the nucleotide position 1150, causes a change in amino acid position 384 from aspartic acid to asparagine (Asp384Asn). This change from an acidic to a basic amino acid may potentially cause structural and/or functional changes in the translated protein. The identified change is located next to a putative caesin kinase II phosphorylation site and is within a conserved olfactomidin domain. Conclusion: Mutations were found in individuals of all three ancestral populations screened. A novel mutation, Asp384Asn, has been identified in exon 3 of the TIGR gene in a Colombian study participant with Juvenile Glaucoma. Support: Pan-American Association of Ophthalmology, NIH-EY09580.

Keywords: 420 genetics • 335 candidate gene analysis • 480 mutations