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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
- Source :
- European Journal of Human Genetics. 17:1112-1120
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
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.
- Subjects :
- Male
Indian hedgehog
DNA Mutational Analysis
Molecular Sequence Data
Biology
medicine.disease_cause
Article
Genetics
medicine
Humans
Hedgehog Proteins
Amino Acid Sequence
Codon
Gene
Peptide sequence
Genetics (clinical)
Family Health
Mutation
Base Sequence
Sequence Homology, Amino Acid
Brachydactyly
Haplotype
Acrocapitofemoral dysplasia
medicine.disease
biology.organism_classification
Founder Effect
Pedigree
body regions
Female
Hand Deformities, Congenital
New Zealand
Founder effect
Subjects
Details
- ISSN :
- 14765438 and 10184813
- Volume :
- 17
- Database :
- OpenAIRE
- Journal :
- European Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....6fbc055d757144a9ec18b8f057c9f6e3