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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
Joint Authors
Battu, Rajani
Verma, Anshuman
Hariharan, Ramesh
Krishna, Shuba
Kiran, Ravi
Jacob, Jemima
Ganapathy, Aparna
Ramprasad, Vedam L.
Kumaramanickavel, Govindasamy
Jeyabalan, Nallathambi
Ghosh, Arkasubhra
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-04-02
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Battu, Rajani& Verma, Anshuman& Hariharan, Ramesh& Krishna, Shuba& Kiran, Ravi& Jacob, Jemima…[et al.]. 2015. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. BioMed Research International،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1057317
Modern Language Association (MLA)
Battu, Rajani…[et al.]. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. BioMed Research International No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1057317
American Medical Association (AMA)
Battu, Rajani& Verma, Anshuman& Hariharan, Ramesh& Krishna, Shuba& Kiran, Ravi& Jacob, Jemima…[et al.]. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1057317
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057317