NDLI: Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Content Provider	Springer Nature : BioMed Central
Author	Raj, Rajendran Kadarkarai Dhoble, Pankaja Anjanamurthy, Rupa Chermakani, Prakash Kumaran, Manojkumar Devarajan, Bharanidharan Sundaresan, Periasamy
Abstract	Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine. The purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian population. Methods A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south India. Ophthalmic examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG grouping. Genetic analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome sequencing. Results This study identified disease-causing mutations in ABCA4 in 75% (21/28) of patients, 7% (2/28) exhibited benign variants and 18% (5/28) were negative for the disease-causing mutation. Conclusion This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients (STGD1). Our findings highlighted the presence of two novel missense mutations and an (in/del, single base pair deletion & splice variant) in ABCA4. However, genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.
Related Links	https://eandv.biomedcentral.com/counter/pdf/10.1186/s40662-019-0168-8.pdf
Ending Page	10
Page Count	10
Starting Page	1
File Format	HTM / HTML
ISSN	23260254
DOI	10.1186/s40662-019-0168-8
Journal	Eye and Vision
Issue Number	1
Volume Number	7
Language	English
Publisher	BioMed Central
Publisher Date	2020-01-09
Access Restriction	Open
Subject Keyword	Ophthalmology ABCA4 Stargardt Macular degeneration Yellow white flecks Mutation detection South Indian population
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Health Professions
Journal Impact Factor	4.2/2023
5-Year Journal Impact Factor	4.1/2023

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