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Xinran wei, Ling Zhao, Dick Corey, Seanna Grob, Martin Krupa, Hongjun Du, Guy Hughes, Peter X. Shaw, Igor Kozak, Kang Zhang; A Novel Compound Heterozygous Mutation in the BEST1 Gene Causes Autosomal Recessive Best Vitelliform Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4560.
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Autosomal dominant Best vitelliform macular dystrophy (BVMD) is one of the most common retinal dystrophies, which is characterized clinically by deposition of yellowish material in the retinal pigment epithelium (RPE) and subretinal space. Homozygous or compound mutations in the BEST1 gene can cause autosomal recessive BVMD (arBVMD). In this report, we present a novel compound heterozygous mutation in a family with three affected children.
Genomic DNA samples were extracted from a BVMD family of seven individuals, including two parents and five children. Direct DNA sequence analysis was completed for the eleven exons of BEST1 gene.
Our study found that the family is consistent with an autosomal recessive inheritance pattern. We found the unaffected father to have a T>C transition (c.122T>C) in exon 5, resulting in a L41P substitution. The unaffected mother, however, was found to have a different variation, consisting of a T>C transition (c.602T>C) in exon 2, resulting in an I201T substitution. The three affected children harbor both of these variations. The one unaffected child was found to have only one variation (c.122T>C: L41P).
We have shown for the first time that the combination of I201T with L41P can lead to arBVMD. This finding adds to the spectrum of clinical presentations caused by BEST1 mutations. Understanding the genetics of the bestrophinopathies and the cause of different forms of the disease will allow for the development of potential gene therapy regimens and new diagnostic modalities.
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