British adolescent idiopathic scoliosis family database

Aims of the study:

Adolescent idiopathic scoliosis (AIS) is the most common form of scoliosis, affecting up to 4% of children worldwide. Familial inheritance of AIS is now recognised and several potential candidate genes have been found. In this study, the team reports findings from a genome-wide scan of 25 British families affected with autosomal dominant AIS and the identification of two significant genetic locations in 10 of these families. This is this is the first report of linkage analysis for AIS in the British population.  

Outcome of research:

This study reports a mapped gene on chromosome 9 which has been previously been observed and a novel location on chromosome 17. The independent mapping of AIS in eight of the families studied to a specific location on chromosome 9 (locus 9q31.2-q34.2) predisposing to severe scoliotic curves is in agreement with the previously published data.  This study confirms the presence of a causative gene on chromosome 9 and suggests a novel causative genetic location on chromosome 17 linked to scoliosis.

Publication:

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, A H Child

  1. Med. Genet. 2008;45 (2);87-92.

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