Idiopathic Scoliosis Genes

[LindaRacine]

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

[SandyC]

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

[LindaRacine]

It really is interesting...

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

[The Professor]

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.