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Yang Li, LU TIAN; Screening of BEST1 gene in a Chinese cohort with Best vitelliform macular dystrophy or autosomal recessive bestrophinopathy. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4650.
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© ARVO (1962-2015); The Authors (2016-present)
Mutations in the BEST1 gene can cause bestrophinopathies including Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopathy, and adult-onset vitelliform macular degeneration. The purpose of this study was to determine the BEST1 mutation spectrum in a cohort of Chinese patients with BVMD or autosomal ARB and describe the clinical features of the patients with BEST1 mutations.
A total of 31 probands were recruited for genetic analysis, including 15 patients diagnosed with BVMD and 16 individuals with ARB; of them, only 6 probands had family history. All probands underwent detailed ophthalmic examinations. All coding exons and exon-intron boundaries of the BEST1 gene were screened for mutations by PCR-based DNA sequencing, followed by analyses for pathogenicity by in silico programs. Real-time quantitative PCR (RQ-PCR) was performed to detect any genomic DNA rearrangements of the BEST1 gene.
For BVMD patients, one heterozygous BEST1 mutations were identified in 12 probands and compound heterozygous mutations in two patients. For ARB patients, two mutant alleles were identified in 11 patients and one mutant allele in 5 patients. In total, 32 disease-causing variants of the BEST1 gene, including 17 novels, were identified. The identified mutations included 25 (83.3%) missense, 1 (3.3%) nonsense, 3 (10.0%) splicing effect, and 1 (3.3%) frameshift small duplication mutations.
Mutations that cause ARB differ from those that cause BVMD. Genetic analyses are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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