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Abstract #126560 Published in IGR 25-2

Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with Arg1034Cys

PURPOSE: To analyze exome sequence data from Indian cases with primary congenital glaucoma (PCG) for pathogenic variants. MATERIALS/METHODS: In this cross-sectional observational study, ten consecutive, unrelated patients with a clinical diagnosis of PCG residing in India were enrolled. Medical history, family history, and complete ocular examination were carried out for all patients. Whole-exome sequencing was performed and analyzed for pathogenic variants. RESULTS: Pathogenic or likely pathogenic variants in were identified in 3 cases, c.1169 G>A; p.Arg390His (homozygous in 2 cases) and c479_481; p.Asn160del in one case. One case carried a single allele c.1094 G>A; p.Gly365Glu that was predicted to be pathogenic and another case carried a variant of uncertain significance (c.1798 G>T; p.Val600Leu). Of interest, one case was found to harbor a recently described missense allele (c.3100C>T; p.Arg1034Cys) involving the same amino acid residue (p.Arg1034) previously found to be altered in three PCG families with diverse ancestry. CONCLUSIONS: Likely disease-causing variants in previously known early onset glaucoma genes were identified in 4 of 10 cases analyzed in this study, including a recurrent missense mutation p.Arg1034Cys. This study is the second report of a missense mutation in PCG and provides additional support for the contribution of this gene to PCG phenotypes.

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Classification:

15 Miscellaneous

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