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Article: Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

TitleFrameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia
Authors
KeywordsAutosomal recessive
Bone aplasia and hypoplasia
Cartilage-derived morphogenetic protein 1
CDMP1 mutation
Grebe-type chondrodysplasia
Issue Date2002
PublisherJohn Wiley & Sons, Inc.
Citation
American Journal Of Medical Genetics, 2002, v. 111 n. 1, p. 31-37 How to Cite?
AbstractGrebe-type chondrodysplasia exhibits a severe form of limb shortening and appendicular bone dysmorpho genesis. Here we report a family with seven males and six females who inherited the disorder in an autosomal recessive fashion. While the carrier parents did not exhibit any apparent skeletal abnormalities, all affected patients had a similar phenotype with unaffected axial and craniofacial bones. Since mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in similar acromesomelic chondrodysplasias, we examined genomic DNA from affected and normal subjects for possible mutations in CDMP1. In affected subjects, an insertion of a C at nucleotide 297 of the coding sequence was discovered. This insertion produced a shift in the reading frame at amino acid residue 99, causing premature termination of the polypeptide six amino acids downstream. DNA samples from 41 control subjects did not show this mutation. The truncated CDMP1 protein in these subjects is predicted to cause a total loss of its signaling function. The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes. © 2002 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/44373
ISSN
2003 Impact Factor: -999.999
2009 SCImago Journal Rankings: 1.100
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorAhmad, Wen_HK
dc.contributor.authorWahab, Aen_HK
dc.contributor.authorHaque, Sen_HK
dc.contributor.authorAzim, ACen_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorTeebi, ASen_HK
dc.contributor.authorAhmad, Men_HK
dc.contributor.authorCohn, DHen_HK
dc.contributor.authorSiddique, Ten_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:52:18Z-
dc.date.available2007-09-12T03:52:18Z-
dc.date.issued2002en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, 2002, v. 111 n. 1, p. 31-37en_HK
dc.identifier.issn0148-7299en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44373-
dc.description.abstractGrebe-type chondrodysplasia exhibits a severe form of limb shortening and appendicular bone dysmorpho genesis. Here we report a family with seven males and six females who inherited the disorder in an autosomal recessive fashion. While the carrier parents did not exhibit any apparent skeletal abnormalities, all affected patients had a similar phenotype with unaffected axial and craniofacial bones. Since mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in similar acromesomelic chondrodysplasias, we examined genomic DNA from affected and normal subjects for possible mutations in CDMP1. In affected subjects, an insertion of a C at nucleotide 297 of the coding sequence was discovered. This insertion produced a shift in the reading frame at amino acid residue 99, causing premature termination of the polypeptide six amino acids downstream. DNA samples from 41 control subjects did not show this mutation. The truncated CDMP1 protein in these subjects is predicted to cause a total loss of its signaling function. The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes. © 2002 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc.en_HK
dc.relation.ispartofAmerican Journal of Medical Geneticsen_HK
dc.subjectAutosomal recessiveen_HK
dc.subjectBone aplasia and hypoplasiaen_HK
dc.subjectCartilage-derived morphogenetic protein 1en_HK
dc.subjectCDMP1 mutationen_HK
dc.subjectGrebe-type chondrodysplasiaen_HK
dc.subject.meshGrebe-type chondrodysplasiaen_HK
dc.subject.meshCdmp1 mutationen_HK
dc.subject.meshAutosomal recessiveen_HK
dc.subject.meshBone aplasia and hypoplasiaen_HK
dc.subject.meshCartilage-derived morphogenetic protein 1en_HK
dc.titleFrameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0148-7299&volume=111&issue=1&spage=31&epage=37&date=2002&atitle=Frameshift+mutation+in+the+cartilage-derived+morphogenetic+protein+1+(CDMP1)+gene+and+severe+acromesomelic+chondrodysplasia+resembling+Grebe-type+chondrodysplasiaen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1002/ajmg.10501en_HK
dc.identifier.pmid12124730-
dc.identifier.scopuseid_2-s2.0-0037157775en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037157775&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume111en_HK
dc.identifier.issue1en_HK
dc.identifier.spage31en_HK
dc.identifier.epage37en_HK
dc.identifier.isiWOS:000176822200005-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridAhmad, W=7006313694en_HK
dc.identifier.scopusauthoridWahab, A=55390790200en_HK
dc.identifier.scopusauthoridHaque, S=7102339121en_HK
dc.identifier.scopusauthoridAzim, AC=36811644300en_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK
dc.identifier.scopusauthoridAhmad, M=7402896220en_HK
dc.identifier.scopusauthoridCohn, DH=7202567606en_HK
dc.identifier.scopusauthoridSiddique, T=7004493828en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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