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New disease gene location and high genetic heterogeneity in idiopathic scoliosis

Abstract : Idiopathic scoliosis is a spine disorder of unknown origin with 1.5-3% prevalence in the general population. Besides the large multifactorial form sample of idiopathic scoliosis, there is a good evidence for the existence of a monogenic subgroup in which the disease is inherited in a dominant manner. However, results from literature suggest a strong heterogeneity in the locations of the mutated genes. Using a high resolution genome-wide scan, we performed linkage analyses in three large multigenerational idiopathic scoliosis families compatible with dominant inheritance including 9 to 12 affected members or obligate carriers. In two of these families, our results suggested intra-familial genetic heterogeneity whereas, in the other, we observed a perfect marker disease co-segregation in two regions at 3q12.1 and 5q13.3. We can state that one of these two locations is a novel idiopathic scoliosis disease gene locus, since the probability of having this perfect co-segregation twice by chance in the genome is very low (p=0.001). Lastly, in all three families studied, linkage to the previously mapped dominant idiopathic scoliosis loci on chromosomes 19p13.3, 17p11.2, 9q34, 17q25 and 18q is unlikely, confirming that there is a high genetic heterogeneity within the subgroup of dominant forms of idiopathic scoliosis.
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Submitted on : Friday, September 16, 2011 - 2:51:22 AM
Last modification on : Tuesday, February 25, 2020 - 7:02:05 PM
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Patrick Edery, Patricia Margaritte-Jeannin, Bernard Biot, Audrey Labalme, Jean-Claude Bernard, et al.. New disease gene location and high genetic heterogeneity in idiopathic scoliosis. European Journal of Human Genetics, Nature Publishing Group, 2011, ⟨10.1038/ejhg.2011.31⟩. ⟨hal-00624160⟩

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