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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
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
 
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 FieldValue
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
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
 
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
 
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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