Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
Bottom Line: The exome sequencing and subsequent bioinformatics filtering resulted in 16 potentially damaging and rare coding variants.The variant p.Asn786Ser also is overrepresented in a larger cohort of idiopathic scoliosis cases compared with a control population (P = 0.024).Furthermore, we identified additional rare HSPG2 variants that are predicted to be damaging in two independent cohorts of individuals with idiopathic scoliosis.
Affiliation: Department of Orthopedics, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, 80045.Show MeSH
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Mentions: Overall, 21 potentially damaging and rare variants in HSPG2 were identified in the combined Denver-St. Louis IS population, with 48 occurrences in 241 individuals. The variants are distributed across the HSPG2 gene (Figure 2).
Affiliation: Department of Orthopedics, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, 80045.