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Article

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.

Scientific reports - 5 Jul 2018

Nguyen Thong T, Poornachandra B, Verma Anshuman, Mehta Ruchir A, Phalke Sameer, Battu Rajani, Ramprasad Vedam L, Peterson Andrew S, Ghosh Arkasubhra, Seshagiri Somasekar

Abstract excerpt

Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals. We identified five mutations in BEST1, including p.Tyr131Cys in family A,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29976937
DOI: 10.1038/s41598-018-27951-8
PMCID: PMC6033935

Genes

BEST1

Variants

Provenance

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Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.PMID 29976937Read ↗

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