File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

TitleBrachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
Authors
Issue Date2009
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal Of Human Genetics, 2009, v. 17 n. 9, p. 1112-1120 How to Cite?
Abstract
Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We describe two novel mutations in codons 128 and 130, not previously implicated in BDA1. Furthermore, we identified an independent mutation at codon 131 and we also describe a New Zealand family, which carries the 'Farabee' founder mutation and haplotype. All of the BDA1 mutations occur in a restricted area of the N-terminal active fragment of the IHH and are in contrast to those mutations causing an autosomal recessive acrocapitofemoral dysplasia, whose mutations are located at the distal N- and C-terminal regions of IHH-N and are physically separated from the BDA1-causing mutations. The identification of multiple independent mutations in codons 95, 100, and now in 131, implicate a discrete function for this region of the protein. Finally, we present a clinical review of all reported and confirmed cases of BDA1, highlighting features of the disorder, which add to the spectrum of the IHH mutations.
Persistent Identifierhttp://hdl.handle.net/10722/59505
ISSN
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
ISI Accession Number ID
Funding AgencyGrant Number
Canadian Institute of Health Research (DEB)
Ontario Graduate Studentship
Funding Information:

The authors thank the families for their participation and Dr John Christodoulou for his help in arranging the examination of two patients. This work was funded by the Canadian Institute of Health Research (DEB). LR is funded by an Ontario Graduate Studentship.

References

 

Author Affiliations
  1. Tel Aviv Sourasky Medical Center
  2. Centre hospitalier pour enfants de l'est de l'Ontario
  3. The University of Hong Kong
  4. Wellington Hospital, New Zealand
  5. University of Ottawa, Canada
DC FieldValueLanguage
dc.contributor.authorByrnes, AMen_HK
dc.contributor.authorRacacho, Len_HK
dc.contributor.authorGrimsey, Aen_HK
dc.contributor.authorHudgins, Len_HK
dc.contributor.authorKwan, ACen_HK
dc.contributor.authorSangalli, Men_HK
dc.contributor.authorKidd, Aen_HK
dc.contributor.authorYaron, Yen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorNikkel, SMen_HK
dc.contributor.authorBulman, DEen_HK
dc.date.accessioned2010-05-31T03:51:37Z-
dc.date.available2010-05-31T03:51:37Z-
dc.date.issued2009en_HK
dc.identifier.citationEuropean Journal Of Human Genetics, 2009, v. 17 n. 9, p. 1112-1120en_HK
dc.identifier.issn1018-4813en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59505-
dc.description.abstractMutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We describe two novel mutations in codons 128 and 130, not previously implicated in BDA1. Furthermore, we identified an independent mutation at codon 131 and we also describe a New Zealand family, which carries the 'Farabee' founder mutation and haplotype. All of the BDA1 mutations occur in a restricted area of the N-terminal active fragment of the IHH and are in contrast to those mutations causing an autosomal recessive acrocapitofemoral dysplasia, whose mutations are located at the distal N- and C-terminal regions of IHH-N and are physically separated from the BDA1-causing mutations. The identification of multiple independent mutations in codons 95, 100, and now in 131, implicate a discrete function for this region of the protein. Finally, we present a clinical review of all reported and confirmed cases of BDA1, highlighting features of the disorder, which add to the spectrum of the IHH mutations.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_HK
dc.relation.ispartofEuropean Journal of Human Geneticsen_HK
dc.titleBrachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehogen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1018-4813&volume=17&spage=1112&epage=1120&date=2009&atitle=Brachydactyly+A-1+mutations+restricted+to+the+central+region+of+the+N-terminal+active+fragment+of+Indian+Hedgehogen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/ejhg.2009.18en_HK
dc.identifier.pmid19277064en_HK
dc.identifier.scopuseid_2-s2.0-69249232260en_HK
dc.identifier.hkuros157638en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-69249232260&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume17en_HK
dc.identifier.issue9en_HK
dc.identifier.spage1112en_HK
dc.identifier.epage1120en_HK
dc.identifier.isiWOS:000269449900004-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridByrnes, AM=35336036700en_HK
dc.identifier.scopusauthoridRacacho, L=7801522492en_HK
dc.identifier.scopusauthoridGrimsey, A=11940720900en_HK
dc.identifier.scopusauthoridHudgins, L=7005274597en_HK
dc.identifier.scopusauthoridKwan, AC=36897953900en_HK
dc.identifier.scopusauthoridSangalli, M=35337857200en_HK
dc.identifier.scopusauthoridKidd, A=7005028503en_HK
dc.identifier.scopusauthoridYaron, Y=7004889509en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridNikkel, SM=6506675666en_HK
dc.identifier.scopusauthoridBulman, DE=35432520900en_HK
dc.identifier.citeulike4166569-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats