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Article: Novel and homozygous best1 mutations in chinese patients with best vitelliform macular dystrophy

TitleNovel and homozygous best1 mutations in chinese patients with best vitelliform macular dystrophy
Authors
KeywordsBest vitelliform macular dystrophy
BEST1 mutations
Genetic diseases
Genotype
Phenotype
VMD2 mutations
Issue Date2010
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.retinajournal.com
Citation
Retina, 2010, v. 30 n. 5, p. 820-827 How to Cite?
AbstractPurpose: 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.
Persistent Identifierhttp://hdl.handle.net/10722/92830
ISSN
2015 Impact Factor: 3.039
2015 SCImago Journal Rankings: 1.912
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, RLMen_HK
dc.contributor.authorHou, Pen_HK
dc.contributor.authorChoy, KWen_HK
dc.contributor.authorChiang, SWYen_HK
dc.contributor.authorTam, POSen_HK
dc.contributor.authorLi, Hen_HK
dc.contributor.authorChan, WMen_HK
dc.contributor.authorLam, DSCen_HK
dc.contributor.authorPang, CPen_HK
dc.contributor.authorLai, TYYen_HK
dc.date.accessioned2010-09-17T10:58:39Z-
dc.date.available2010-09-17T10:58:39Z-
dc.date.issued2010en_HK
dc.identifier.citationRetina, 2010, v. 30 n. 5, p. 820-827en_HK
dc.identifier.issn0275-004Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/92830-
dc.description.abstractPurpose: 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.en_HK
dc.languageengen_HK
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.retinajournal.comen_HK
dc.relation.ispartofRetinaen_HK
dc.subjectBest vitelliform macular dystrophyen_HK
dc.subjectBEST1 mutationsen_HK
dc.subjectGenetic diseasesen_HK
dc.subjectGenotypeen_HK
dc.subjectPhenotypeen_HK
dc.subjectVMD2 mutationsen_HK
dc.titleNovel and homozygous best1 mutations in chinese patients with best vitelliform macular dystrophyen_HK
dc.typeArticleen_HK
dc.identifier.emailWong, RLM:ray81@hku.hken_HK
dc.identifier.authorityWong, RLM=rp1394en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1097/IAE.0b013e3181c700c1en_HK
dc.identifier.pmid20057343-
dc.identifier.scopuseid_2-s2.0-77952245685en_HK
dc.identifier.hkuros209102-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77952245685&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume30en_HK
dc.identifier.issue5en_HK
dc.identifier.spage820en_HK
dc.identifier.epage827en_HK
dc.identifier.eissn1539-2864-
dc.identifier.isiWOS:000278549000017-
dc.publisher.placeUnited Statesen_HK

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