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Article: Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

TitleMutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
Authors
KeywordsAcromesomelic chondrodysplasia
Autosomal recessive
CDMP1 mutation
Complex brachydactyly
DuPan syndrome
Fibular hypoplasia
Issue Date2002
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2002, v. 61 n. 6, p. 454-458 How to Cite?
AbstractThe present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as an autosomal recessive trait. All affected individuals showed either reductions or absence of bones in the limbs, and appendicular bone dysmorphogenesis with unaffected axial bones. Obligate heterozygote parents were phenotypically normal. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in two acromesomelic chondrodysplasias (i.e. Hunter-Thompson type and Grebe type) which are phenotypically related to DuPan syndrome. CDMP1, a member of the transforming growth factor β super-family of secreted signalling molecules, has been reported to regulate limb patterning and distal bone growth. Therefore, the present authors examined genomic DNA from the family with DuPan syndrome for mutations in the CDMP1 gene. Affected individuals were homozygous for a missense mutation, T1322C, in the coding region of the CDMP1 gene. This mutation was not found in 44 control subjects of Pakistani origin. The T1322C change predicts a leu441pro substitution in the mature domain of the CDMP1 protein. This is likely to cause a conformational change in the CDMP1 protein that influences the expression of genes which are required for normal bone development. This finding extends the spectrum of phenotypes produced by defects in the CDMP1 gene.
Persistent Identifierhttp://hdl.handle.net/10722/44372
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorAhmad, Wen_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorHaque, Sen_HK
dc.contributor.authorTeebi, ASen_HK
dc.contributor.authorAhmad, Men_HK
dc.contributor.authorCohn, DHen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:52:17Z-
dc.date.available2007-09-12T03:52:17Z-
dc.date.issued2002en_HK
dc.identifier.citationClinical Genetics, 2002, v. 61 n. 6, p. 454-458en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44372-
dc.description.abstractThe present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as an autosomal recessive trait. All affected individuals showed either reductions or absence of bones in the limbs, and appendicular bone dysmorphogenesis with unaffected axial bones. Obligate heterozygote parents were phenotypically normal. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in two acromesomelic chondrodysplasias (i.e. Hunter-Thompson type and Grebe type) which are phenotypically related to DuPan syndrome. CDMP1, a member of the transforming growth factor β super-family of secreted signalling molecules, has been reported to regulate limb patterning and distal bone growth. Therefore, the present authors examined genomic DNA from the family with DuPan syndrome for mutations in the CDMP1 gene. Affected individuals were homozygous for a missense mutation, T1322C, in the coding region of the CDMP1 gene. This mutation was not found in 44 control subjects of Pakistani origin. The T1322C change predicts a leu441pro substitution in the mature domain of the CDMP1 protein. This is likely to cause a conformational change in the CDMP1 protein that influences the expression of genes which are required for normal bone development. This finding extends the spectrum of phenotypes produced by defects in the CDMP1 gene.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.comen_HK
dc.subjectAcromesomelic chondrodysplasiaen_HK
dc.subjectAutosomal recessiveen_HK
dc.subjectCDMP1 mutationen_HK
dc.subjectComplex brachydactylyen_HK
dc.subjectDuPan syndromeen_HK
dc.subjectFibular hypoplasiaen_HK
dc.subject.meshAcromesomelic chondrodysplasiaen_HK
dc.subject.meshDupan syndromeen_HK
dc.subject.meshAutosomal recessiveen_HK
dc.subject.meshCdmp1 mutationen_HK
dc.subject.meshComplex brachydactylyen_HK
dc.titleMutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=61&issue=6&spage=454&epage=458&date=2002&atitle=Mutation+in+the+cartilage-derived+morphogenetic+protein-1+(CDMP1)+gene+in+a+kindred+affected+with+fibular+hypoplasia+and+complex+brachydactyly+(DuPan+syndrome)en_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.doi10.1034/j.1399-0004.2002.610610.xen_HK
dc.identifier.pmid12121354-
dc.identifier.scopuseid_2-s2.0-12244257526en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-12244257526&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume61en_HK
dc.identifier.issue6en_HK
dc.identifier.spage454en_HK
dc.identifier.epage458en_HK
dc.identifier.isiWOS:000176744600010-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridAhmad, W=7006313694en_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridHaque, S=7102339121en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK
dc.identifier.scopusauthoridAhmad, M=7402896220en_HK
dc.identifier.scopusauthoridCohn, DH=7202567606en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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