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

Abstract 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.
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28687848
OWN - NLM
STAT- MEDLINE
DA  - 20170708
DCOM- 20170714
LR  - 20170714
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 9
DP  - 2017 Jul 01
TI  - Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular
      Dystrophy or Autosomal Recessive Bestrophinopathy.
PG  - 3366-3375
LID - 10.1167/iovs.17-21999 [doi]
AB  - 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.
FAU - Tian, Lu
AU  - Tian L
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
FAU - Sun, Tengyang
AU  - Sun T
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
FAU - Xu, Ke
AU  - Xu K
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
FAU - Zhang, Xiaohui
AU  - Zhang X
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
FAU - Peng, Xiaoyan
AU  - Peng X
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
FAU - Li, Yang
AU  - Li Y
AD  - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren
      Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences
      Key Laboratory, Beijing, China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (BEST1 protein, human)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
RN  - Bestrophinopathy
SB  - IM
MH  - Adult
MH  - Asian Continental Ancestry Group/*genetics
MH  - China
MH  - Chloride Channels/*genetics
MH  - DNA Mutational Analysis
MH  - Eye Diseases, Hereditary/diagnosis/*genetics
MH  - Eye Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Mass Screening/methods
MH  - Middle Aged
MH  - *Mutation
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Retinal Diseases/diagnosis/*genetics
MH  - Vitelliform Macular Dystrophy/diagnosis/*genetics
EDAT- 2017/07/09 06:00
MHDA- 2017/07/15 06:00
CRDT- 2017/07/09 06:00
AID - 2643337 [pii]
AID - 10.1167/iovs.17-21999 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Jul 1;58(9):3366-3375. doi:
      10.1167/iovs.17-21999.