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Article: Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene

TitleMetaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene
Authors
Lam, ACFChan, DHCTong, TMFTang, MHYLo, SYFLo, IFMLam, STS
KeywordsCartilage-hair hypoplasia
McKusick type
Metaphyseal chondrodysplasia
RMRP gene
Skeletal dysplasia
Issue Date2006
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2006, v. 26 n. 11, p. 1018-1020 How to Cite?
DOI: http://dx.doi.org/10.1002/pd.1547
AbstractWe present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T>A and 79G>T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T>C mutations, two homozygous g.1018 T>C mutations, two heterozygous insertion mutations g.799_g.800insC and one heterozygous insertion mutation g.849_g.850insT were found among 100 normal controls. Careful radiological examination of the fetus for skeletal dysplasia allowed definitive diagnosis, proper genetic counselling and future prenatal diagnosis. Copyright © 2006 John Wiley & Sons. Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/180684
ISSN
0197-3851
2023 Impact Factor: 2.7
2023 SCImago Journal Rankings: 0.986
ISI Accession Number ID
WOS:000242251300004
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, ACFen_US
dc.contributor.authorChan, DHCen_US
dc.contributor.authorTong, TMFen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorLo, SYFen_US
dc.contributor.authorLo, IFMen_US
dc.contributor.authorLam, STSen_US
dc.date.accessioned2013-01-28T01:41:05Z-
dc.date.available2013-01-28T01:41:05Z-
dc.date.issued2006en_US
dc.identifier.citationPrenatal Diagnosis, 2006, v. 26 n. 11, p. 1018-1020en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180684-
dc.description.abstractWe present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T>A and 79G>T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T>C mutations, two homozygous g.1018 T>C mutations, two heterozygous insertion mutations g.799_g.800insC and one heterozygous insertion mutation g.849_g.850insT were found among 100 normal controls. Careful radiological examination of the fetus for skeletal dysplasia allowed definitive diagnosis, proper genetic counselling and future prenatal diagnosis. Copyright © 2006 John Wiley & Sons. Ltd.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subjectCartilage-hair hypoplasia-
dc.subjectMcKusick type-
dc.subjectMetaphyseal chondrodysplasia-
dc.subjectRMRP gene-
dc.subjectSkeletal dysplasia-
dc.subject.meshAbortion, Eugenicen_US
dc.subject.meshAdulten_US
dc.subject.meshEndoribonucleases - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshOsteochondrodysplasias - Geneticsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.titleMetaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP geneen_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/pd.1547en_US
dc.identifier.pmid16941720-
dc.identifier.scopuseid_2-s2.0-33751325310en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33751325310&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume26en_US
dc.identifier.issue11en_US
dc.identifier.spage1018en_US
dc.identifier.epage1020en_US
dc.identifier.isiWOS:000242251300004-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLam, ACF=12782043600en_US
dc.identifier.scopusauthoridChan, DHC=34667591300en_US
dc.identifier.scopusauthoridTong, TMF=8648362100en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridLo, SYF=15073293500en_US
dc.identifier.scopusauthoridLo, IFM=7004438286en_US
dc.identifier.scopusauthoridLam, STS=7402279428en_US
dc.identifier.issnl0197-3851-

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