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Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.

Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH - G3 (Bethesda) (2014)

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopedics, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, 80045.

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Related in: MedlinePlus

Rare HSPG2 variants identified in IS patients. Structure of the HSPG2 protein showing the amino acid positions of the rare coding variants identified in the combined IS cohort of 241 individuals. Amino acid positions are based on transcript NM_005529.5. Variant p.Asn786Ser is the original variant identified in this study (combined Denver−St. Louis dataset, P = 0.024, odds ratio 2.4). Also note that variant 22186669 (c.5014+1G > A) is not shown on the diagram because it is a splicing variant and does not have an amino acid position. IS, idiopathic scoliosis.
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fig2: Rare HSPG2 variants identified in IS patients. Structure of the HSPG2 protein showing the amino acid positions of the rare coding variants identified in the combined IS cohort of 241 individuals. Amino acid positions are based on transcript NM_005529.5. Variant p.Asn786Ser is the original variant identified in this study (combined Denver−St. Louis dataset, P = 0.024, odds ratio 2.4). Also note that variant 22186669 (c.5014+1G > A) is not shown on the diagram because it is a splicing variant and does not have an amino acid position. IS, idiopathic scoliosis.

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).


Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.

Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH - G3 (Bethesda) (2014)

Rare HSPG2 variants identified in IS patients. Structure of the HSPG2 protein showing the amino acid positions of the rare coding variants identified in the combined IS cohort of 241 individuals. Amino acid positions are based on transcript NM_005529.5. Variant p.Asn786Ser is the original variant identified in this study (combined Denver−St. Louis dataset, P = 0.024, odds ratio 2.4). Also note that variant 22186669 (c.5014+1G > A) is not shown on the diagram because it is a splicing variant and does not have an amino acid position. IS, idiopathic scoliosis.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4321025&req=5

fig2: Rare HSPG2 variants identified in IS patients. Structure of the HSPG2 protein showing the amino acid positions of the rare coding variants identified in the combined IS cohort of 241 individuals. Amino acid positions are based on transcript NM_005529.5. Variant p.Asn786Ser is the original variant identified in this study (combined Denver−St. Louis dataset, P = 0.024, odds ratio 2.4). Also note that variant 22186669 (c.5014+1G > A) is not shown on the diagram because it is a splicing variant and does not have an amino acid position. IS, idiopathic scoliosis.
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).

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopedics, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, 80045.

Show MeSH
Related in: MedlinePlus