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Biomed Res Int. 2015;2015:940864. doi: 10.1155/2015/940864. Epub 2015 Apr 2.

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Author information

1
Department of Vitreoretina, Narayana Nethralaya, Bangalore, India.
2
GROW Research Laboratory, Narayana Nethralaya, Narayana Health City, Bommasandra, Bangalore, Karnataka 560 099, India.
3
Strand Life Sciences Pvt. Ltd., Bangalore, India.
4
MedGenome Labs Pvt. Ltd., Bangalore, India.
5
GROW Research Laboratory, Narayana Nethralaya, Narayana Health City, Bommasandra, Bangalore, Karnataka 560 099, India ; Singapore Eye Research Institute, Singapore.

Abstract

Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities. In this study, we have described the clinical and genetic features of Stargardt patients from an Indian cohort. The next generation sequencing was carried out in five clinically confirmed unrelated patients and their family members using a gene panel comprising 184 retinal specific genes. Sequencing results were analyzed by read mapping and variant calling in genes of interest, followed by their verification and interpretation. Genetic analysis revealed ABCA4 mutations in all of the five unrelated patients. Among these, four patients were found with compound heterozygous mutations and another one had homozygous mutation. All the affected individuals showed signs and symptoms consistent with the disease phenotype. We report two novel ABCA4 mutations in Indian patients with STGD disease, which expands the existing spectrum of disease-causing variants and the understanding of phenotypic and genotypic correlations. Screening for causative mutations in patients with STGD using panel of targeted gene sequencing by NGS would be a cost effective tool, might be helpful in confirming the precise diagnosis, and contributes towards the genetic counselling of asymptomatic carriers and isolated patients.

PMID:
25922843
PMCID:
PMC4398921
DOI:
10.1155/2015/940864
[Indexed for MEDLINE]
Free PMC Article

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