CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Novel and homozygous best1 mutations in chinese patients with best vitelliform macular dystrophy
Authors
WM Chan
SWY Chiang
+8 more
KW Choy
P Hou
TYY Lai
DSC Lam
H Li
CP Pang
POS Tam
RLM Wong
Publication date
1 January 2010
Publisher
'Ovid Technologies (Wolters Kluwer Health)'
Doi
Cite
Abstract
Purpose: The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD). Methods: Twenty-six subjects from 7 Chinese families with BVMD and 100 unrelated healthy Chinese subjects without a family history of BVMD were screened for mutations in the BEST1 gene by direct sequencing. The subjects underwent complete ophthalmologic examination and BEST1 gene screening. Results: Six novel missense mutations (Thr2Asn, Leu75Phe, Ser144Asn, Arg255Trp, Pro297Thr, and Asp301Gly) and 1 previously reported mutation (Arg218Cys) were identified. Each family was found to have a unique BEST1 mutation that segregated with the disease. Two of the six novel mutations are located within the four previously reported common mutation clusters within the BEST1 gene. One family with patients having homozygous Leu75Phe mutations did not have the more severe BVMD phenotype. None of the patients with mutations was identified among the 100 healthy control subjects. Conclusion: 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. © The Ophthalmic ommunications Society, Inc.link_to_subscribed_fulltex
Similar works
Full text
Available Versions
HKU Scholars Hub
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:hub.hku.hk:10722/92830
Last time updated on 01/06/2016