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Thread: Idiopathic Scoliosis Genes

  1. #1
    Join Date
    Sep 2003
    Location
    Northern California
    Posts
    6,797

    Idiopathic Scoliosis Genes

    Hi...

    There's a newly published study that might be of interest to many here:

    http://www.ncbi.nlm.nih.gov/entrez/q...=pubmed_docsum

    "CONCLUSIONS: Nearly all (97%) AIS patients have familial origins. There appears to be at least one major gene, and the differences in penetrance and expressivity in two large unconnected pedigrees might suggest the presence of more than one gene."

    --Linda

  2. #2
    Join Date
    Sep 2003
    Location
    Fernley, Nevada
    Posts
    352
    This is an interesting study.

    For years my family thought the scoli came from my maternal German side. We all may owe my grandmother a big apology and instead blame my English grandfather's side LOL . On the paternal side we also thought that the maternal Norwiegen side on my Dad's side had the scoli gene, when all along the paternal Scot's may be the problem

    Love this kind of info, Thanks Linda
    SandyC

  3. #3
    Join Date
    Sep 2003
    Location
    Northern California
    Posts
    6,797
    It really is interesting...

    In my case, neither of my parents, nor any of my 7 siblings, are known to have scoliosis.

  4. #4
    Join Date
    Feb 2006
    Location
    Southeastern US
    Posts
    57

    Pax1

    The only gene that has thus far been definitively linked to vertebral malformations is Pax1 (paired-box protein 1), which is a transcriptional factor. The mutations P410L and P413L have both been identified as disease-causing alleles with a frequency of about 0.3%, but I think they're only involved in more severe malformations.
    28 degrees cervicothoracic, 34 degrees thoracolumbar, not diagnosed until age 34. Get yourself and your children screened early!

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