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Article: An update on the aetiology of orofacial clefts

TitleAn update on the aetiology of orofacial clefts
Authors
KeywordsCleft lip
Cleft palate
Genetics
Mutation
Syndrome
Issue Date2004
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2004, v. 10 n. 5, p. 331-336 How to Cite?
AbstractObjective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft palate', 'aetiology', and 'genetics'. Data extraction. Relevant information and data were reviewed by the authors. Data synthesis. Cleft lip and palate is one of the most common types of congenital malformation. The aetiology seems complex, but genetics plays a major role. Recently several genes causing syndromic cleft lip and palate have been discovered. Three of them-namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. The nature and function of these genes vary widely, illustrating high vulnerability within the craniofacial developmental pathways. The aetiological complexity of non-syndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. Conclusions. The aetiology of non-syndromic cleft lip and palate is still largely unknown, but mutations in candidate genes have already been identified in a small proportion of cases of non-syndromic cleft lip and palate. Determining the relative risk of cleft lip and palate, on the basis of genetic background and environmental influence, including smoking, alcohol use, and dietary factors, will aid in genetic counselling and the development of future preventive measures.
Persistent Identifierhttp://hdl.handle.net/10722/44554
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorWong, FKen_HK
dc.contributor.authorHägg, Uen_HK
dc.date.accessioned2007-10-30T06:04:04Z-
dc.date.available2007-10-30T06:04:04Z-
dc.date.issued2004en_HK
dc.identifier.citationHong Kong Medical Journal, 2004, v. 10 n. 5, p. 331-336en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44554-
dc.description.abstractObjective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft palate', 'aetiology', and 'genetics'. Data extraction. Relevant information and data were reviewed by the authors. Data synthesis. Cleft lip and palate is one of the most common types of congenital malformation. The aetiology seems complex, but genetics plays a major role. Recently several genes causing syndromic cleft lip and palate have been discovered. Three of them-namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. The nature and function of these genes vary widely, illustrating high vulnerability within the craniofacial developmental pathways. The aetiological complexity of non-syndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. Conclusions. The aetiology of non-syndromic cleft lip and palate is still largely unknown, but mutations in candidate genes have already been identified in a small proportion of cases of non-syndromic cleft lip and palate. Determining the relative risk of cleft lip and palate, on the basis of genetic background and environmental influence, including smoking, alcohol use, and dietary factors, will aid in genetic counselling and the development of future preventive measures.en_HK
dc.format.extent392366 bytes-
dc.format.extent1926 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectCleft lipen_HK
dc.subjectCleft palateen_HK
dc.subjectGeneticsen_HK
dc.subjectMutationen_HK
dc.subjectSyndromeen_HK
dc.subject.meshCleft Lip - embryology - etiologyen_HK
dc.subject.meshCleft Palate - embryology - etiologyen_HK
dc.subject.meshHomeodomain Proteins - geneticsen_HK
dc.subject.meshInterferon Regulatory Factorsen_HK
dc.subject.meshMSX1 Transcription Factoren_HK
dc.titleAn update on the aetiology of orofacial cleftsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=10&issue=5&spage=331&epage=336&date=2004&atitle=An+update+on+the+aetiology+of+orofacial+cleftsen_HK
dc.identifier.emailHägg, U:euohagg@hkusua.hku.hken_HK
dc.identifier.authorityHägg, U=rp00020en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid15479962-
dc.identifier.scopuseid_2-s2.0-5644293371en_HK
dc.identifier.hkuros96127-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-5644293371&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume10en_HK
dc.identifier.issue5en_HK
dc.identifier.spage331en_HK
dc.identifier.epage336en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridWong, FK=7201409684en_HK
dc.identifier.scopusauthoridHägg, U=7006790279en_HK

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