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

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TitleBrachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
AuthorsByrnes, AM5
Racacho, L5
Grimsey, A5
Hudgins, L
Kwan, AC
Sangalli, M4
Kidd, A4
Yaron, Y1
Lau, YL3
Nikkel, SM2
Bulman, DE5
Issue Date2009
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
CitationEuropean Journal Of Human Genetics, 2009, v. 17 n. 9, p. 1112-1120 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2009.18
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.
ISSN1018-4813
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
DOIhttp://dx.doi.org/10.1038/ejhg.2009.18
ISI Accession Number IDWOS:000269449900004
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.

ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorByrnes, AM
dc.contributor.authorRacacho, L
dc.contributor.authorGrimsey, A
dc.contributor.authorHudgins, L
dc.contributor.authorKwan, AC
dc.contributor.authorSangalli, M
dc.contributor.authorKidd, A
dc.contributor.authorYaron, Y
dc.contributor.authorLau, YL
dc.contributor.authorNikkel, SM
dc.contributor.authorBulman, DE
dc.date.accessioned2010-05-31T03:51:37Z
dc.date.available2010-05-31T03:51:37Z
dc.date.issued2009
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.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationEuropean Journal Of Human Genetics, 2009, v. 17 n. 9, p. 1112-1120 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2009.18
dc.identifier.citeulike4166569
dc.identifier.doihttp://dx.doi.org/10.1038/ejhg.2009.18
dc.identifier.epage1120
dc.identifier.hkuros157638
dc.identifier.isiWOS:000269449900004
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.

dc.identifier.issn1018-4813
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
dc.identifier.issue9
dc.identifier.openurl
dc.identifier.pmid19277064
dc.identifier.scopuseid_2-s2.0-69249232260
dc.identifier.spage1112
dc.identifier.urihttp://hdl.handle.net/10722/59505
dc.identifier.volume17
dc.languageeng
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
dc.publisher.placeUnited Kingdom
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.referencesReferences in Scopus
dc.titleBrachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
dc.typeArticle
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