Gene mapping in spondylocostal dysostis

The aims of this study are:

  • To recruit further families nationally and worldwide with the same, or a similar, phenotype to SD. Families demonstrating both autosomal dominant and recessive inheritance will be included. We would also accept familial cases of related conditions such as Goldenhar syndrome or Klippel-Feil anomaly
  • To narrow the genetic interval on chromosome 19, leading to a stage when it will be possible to adopt a candidate gene approach and DNA sequencing. The longer term goal is clearly to identify the gene responsible for this condition and to characterise the genetic alteration (s) within this gene which cause the condition
  • By analysing sufficient families, to understand the degree of genetic heterogeneity which exists for this condition and to identify additional genetic loci by linkage mapping
  • To examine the phenotypic differences in relation to different genetic loci which are identified

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