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Year : 2016  |  Volume : 64  |  Issue : 12  |  Page : 924-929

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia

1 Department of Vitreoretina, Narayana Nethralaya, Bengaluru, Karnataka, India
2 Department of Molecular Signaling and Gene Therapy, Grow Research Laboratory, Narayana Nethralaya Foundation, Narayana Nethralaya, Bengaluru, Karnataka, India
3 Department of Vitreoretina, Vittala International Institute of Ophthalmology, Bengaluru, Karnataka, India
4 Department of Genetics, Strand Life Sciences Pvt. Limited, Bengaluru, Karnataka, India
5 Department of Ophthalmology, Maastricht University, Maastricht, The Netherlands

Correspondence Address:
Nallathambi Jeyabalan
Grow Research Laboratory, Narayana Nethralaya Foundation, Narayana Nethralaya, Bengaluru - 560 099, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.198866

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Purpose: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM). Materials and Methods: In these two families, the affected individuals and unaffected family members underwent a comprehensive ophthalmic examination including an optical coherence tomography (OCT) and electroretinogram. Blood samples were collected from the families for genetic analysis. Next generation sequencing (NGS) was done using a panel of 184 genes, which covered previously associated genes with retinal dystrophies. Sequencing data were analyzed for the CHM, RPGR, and RP2 genes that have been implicated in CHM and X-linked retinitis pigmentosa (XLRP), respectively. The identified variants were confirmed by Sanger sequencing in available individuals and unrelated controls. Results: In two unrelated male patients, NGS analysis revealed a previously reported 3'-splice site change c.820-1G>C in the CHM gene in the first family and hemizygous mutation c.653G>C (p.Ser218X) in the second family. The asymptomatic family members were carriers for these mutations. Spectral domain-OCT showed loss of outer retina, preservation of the inner retina, and choroidal thinning in the affected males and retinal pigment epithelial changes in the asymptomatic carriers. The identified mutations were not present in 100 controls of Indian origin. There were no potential mutations found in XLRP-associated (RPGR and RP2) genes. Conclusion: This report describes the genotype and phenotype findings in patients with CHM from India. The identified genetic mutation leads to lack of Rab escort protein-1 (REP-1) or affects the production of a REP-1 protein that is likely to cause retinal abnormalities in patients.

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