Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 11 January 2012; doi: 10.1038/ejhg.2011.251
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
Simon C Ramsden1, Alice E Davidson2, Bart P Leroy3,4, Anthony T Moore2,5, Andrew R Webster2,5, Graeme C M Black1 and Forbes D C Manson6
1Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
2Institute of Ophthalmology, UCL, London, UK
3Department of Ophthalmology, Ghent University Hospital & Ghent University, Ghent, Belgium
4Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium
5Moorfields Eye Hospital, London, UK
6School of Biomedicine, The University of Manchester, Manchester, UK
Correspondence: Professor GCM Black, Genetic Medicine, St. Mary's Hospital, Oxford Road, Manchester M13 9WL, UK. Tel: +44 (0)161 276 6094; Fax: +44 (0)161 276 6145; E-mail: graeme.black@manchester.ac.uk
Top of page1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Bestrophinopathy (Best disease, Best vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, autosomal recessive bestrophinopathy, adult-onset vitelliform dystrophy, retinitis pigmentosa).
1.2 OMIM# of the disease
Mutations in BEST1 cause a range of clinically heterogeneous retinal dystrophies (collectively termed bestrophinopathies) including; Best disease (OMIM#153700), autosomal dominant vitreoretinochoroidopathy (ADVIRC; OMIM#193220), autosomal recessive bestrophinopathy (ARB: OMIM#611809), adult-onset vitelliform macular dystrophy: OMIM#608161), and retinitis pigmentosa (RP: OMIM#268000 and OMIM#613194).
1.3 Name of the analysed genes or DNA/chromosome segments
BEST1 (formally VMD2).
1.4 OMIM# of the gene(s)
607854.
full-text:
European Journal of Human Genetics - Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
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