Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38SerMutation is a Mild Form of Best Vitelliform Macular Dystrophy

Collection with item attached
2017
Item details URL
http://open-repository.kisti.re.kr/cube/handle/open_repository/474341.do
DOI
10.1038/s41598-017-09629-9
Title
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38SerMutation is a Mild Form of Best Vitelliform Macular Dystrophy
Description
This research was supported by a grant from the Korea Health TechnologyR&D Project through the Korea Health Industry Development Institute(KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea(No. HI16C1009) for Eung Kweon Kim, and a grant 2013R1A3A2042197 fromthe National Research Foundation, the Ministry of Science, ICT & FuturePlanning for Min Goo Lee.
abstract
Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p. Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography. Genetic analysis demonstrated that the patient presented with a heterozygous p. Ile38Ser BEST1 mutation. Surface biotinylation and patch clamp experiments were performed in transfected HEK293T cells. Although, the identified BEST1 mutant maintains normal membrane expression, p. Ile38Ser mutant showed significantly smaller currents than wild type (WT). However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p. Ala195Val, causing autosomal recessive bestrophinopathy (ARB). The cells expressing both WT and each BEST1 mutant showed that the functional defect of p. Ile38ser was milder than that of p. Trp93Cys, whereas combination of p. Ala195Val with WT showed good current. We identified and described the phenotype and in vitro functions of a novel BEST1 mutation causing AVMD. AVMD induced by p. Ile38Ser BEST1 mutation is a mild form of BVMD.
provenance
Made available in Cube on 2018-09-28T10:43:28Z (GMT). No. of bitstreams: 0
language
English
author
Jun, Ikhyun
Lee, Joon Suk
Lee, Ji Hwan
Lee, Christopher Seungkyu
Choi, Seung-il
Gee, Heon Yung
Lee, Min Goo
Kim, Eung Kweon
orcid
Lee, Min Goo/0000-0001-7436-012X
accessioned
2018-09-28T10:43:28Z
available
2018-09-28T10:43:28Z
issued
2017
citation
SCIENTIFIC REPORTS(7)
issn
2045-2322
uri
http://open-repository.kisti.re.kr/cube/handle/open_repository/474341.do
Funder
보건복지부
Funding Program
임상연구인프라조성
Project ID
1465022746
Jurisdiction
Rep.of Korea
Project Name
Development of humanized animal model with TGF-β induced gene related corneal dystrophies and verification of efficacy of gene therapy
rights
openAccess
type
article


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