Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy

Sohn, Elliott H.

doi:10.1001/archophthalmol.2009.148

Cited by 35 publications

(29 citation statements)

References 54 publications

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“…1,29 Interestingly, no mutation was identified in exon 8 (encoding amino acids 290 to 316), which is one of the mutation hot regions that harbors a disproportionate fraction (26%) of the known BVMD disease-causing mutations. 4,12,29,30 Eleven of the 16 mutations were transmitted in an autosomal dominant pattern. The mutation p.R218C was the most common mutation, identified in three unrelated patients.…”

Section: Discussionmentioning

confidence: 99%

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy

Tian

Sun

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. METHODS.A total of 37 probands with a clinical diagnosis of BVMD (17 patients) or ARB (20 patients) were recruited for genetic analysis; of these, only 5 probands had a family history. All probands underwent detailed ophthalmic examinations. All coding exons and exon-intron boundaries of the BEST1 gene were screened by PCR-based DNA sequencing. In silico programs were used to analyze the pathogenicity of all the variants. Genomic DNA rearrangements of the BEST1 gene were identified by real-time quantitative PCR (RQ-PCR).RESULTS. For patients with BVMD, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with ARB, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified, including 28 (77.8%) missense, 3 (8.3%) nonsense, 4 (11.1%) splicing effect, and 1 (2.8%) frameshift small duplication mutations.CONCLUSIONS. The mutation spectrum of the BEST1 gene in Chinese patients differed from those of Caucasian patients. Mutations that cause ARB differ from those that cause BVMD. BEST1 screening is important for precise diagnosis of BVMD or ARB.

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Section: Discussionmentioning

confidence: 99%

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy

Tian

Sun

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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“…Both are within the fourth mutation hotspot and are located within a highly conserved 26-amino acid sequence starting from codon 289 in human BEST2 to BEST4 and in a BEST1-like gene in other species. 26,27 Several mutations at codons 297 and 301 have previously been reported in patients with BVMD. 10,15,16,28 -30 Of note, the Asp301Glu mutation has also been reported in a Chinese patient with BVMD.…”

Section: Discussionmentioning

confidence: 99%

Novel and Homozygous Best1 Mutations in Chinese Patients With Best Vitelliform Macular Dystrophy

Wong¹,

Hou²,

Choy³

et al. 2010

Retina

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A large number of unique novel missense mutations was found in Chinese patients with BVMD, suggesting considerable interethnic differences between the mutation sites in the BEST1 gene in different populations. The few truncating BEST1 mutations and the lack of a more severe phenotype in homozygous patients suggest that the missense BEST1 mutation may produce a dominant negative effect on wild-type BEST1 gene.

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“…Although the effect of bestrophin-1 protein on ocular growth or the development of ACG has not been determined, the high incidence of hyperopia and reduced axial lengths in BVMD patients suggests that some correlation may exist [19]. Therefore, we think it would be necessary to evaluate signs for ACG in BEST1 mutation carriers by gonioscopy and intraocular pressure measurement.…”

Section: Discussionmentioning

confidence: 99%

Novel <b><i>BEST1</i></b> Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy

Liu

Zhang²,

Xuan³

et al. 2016

Ophthalmic Res

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Purpose: To describe the clinical features and to analyze BEST1 mutations in patients with Best vitelliform macular dystrophy (BVMD). Methods: Thirteen individuals affected by BVMD from 6 unrelated Chinese families were studied. Complete ophthalmological examinations were performed, and the BEST1 gene was screened in all participants and 100 controls. Follow-ups were arranged within 12 months. Results: All 6 probands showed typical fundus appearances of BVMD. One of the 6 had a history of angle closure glaucoma, and another showed a unilateral focal choroidal excavation on optical coherence tomography. One patient experienced progression of the macular lesion during the follow-up. The asymptomatic mutation carriers had normal fundus but abnormal Arden ratios on electro-oculograms. Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy. Conclusions: Our findings have expanded the mutational and clinical spectrum of BVMD in a Chinese population. Clinical presentations of angle closure glaucoma and/or focal choroidal excavation may be related to BVMD, underlining the necessity of multimodal studies and risk assessment of angle closure glaucoma in BEST1 mutation carriers. BVMD and adult-onset vitelliform macular dystrophy may share a common etiology in some cases.

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Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy

Cited by 35 publications

References 54 publications

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy

Novel and Homozygous Best1 Mutations in Chinese Patients With Best Vitelliform Macular Dystrophy

Novel <b><i>BEST1</i></b> Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy

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