Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia

Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia Publisher Pubmed

Sailani MR¹ ; Chappell J¹ ; Jingga I¹ ; Narasimha A¹ ; Zia A¹ ; Lynch JL¹ ; Mazrouei S² ; Bernstein JA³ ; Aryani O^{4, 5} ; Snyder MP¹

Source: Cold Spring Harbor Molecular Case Studies Published:2018

Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C>A p.Cys52) is rare and predicted to cause premature termination of the WISP3 protein. © 2018 Sailani et al.

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Style	Citing Format
MLA	Sailani MR, et al.. "Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia." Cold Spring Harbor Molecular Case Studies, vol. 4, no. 1, 2018, pp. -.
APA	Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, Mazrouei S, Bernstein JA, Aryani O, Snyder MP (2018). Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia. Cold Spring Harbor Molecular Case Studies, 4(1), -.
Chicago	Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, Mazrouei S, Bernstein JA, Aryani O, Snyder MP. "Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia." Cold Spring Harbor Molecular Case Studies 4, no. 1 (2018): -.
Harvard	Sailani MR et al. (2018) 'Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia', Cold Spring Harbor Molecular Case Studies, 4(1), pp. -.
Vancouver	Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, et al.. Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia. Cold Spring Harbor Molecular Case Studies. 2018;4(1):-.
BibTex	@article{ author = {Sailani MR and Chappell J and Jingga I and Narasimha A and Zia A and Lynch JL and Mazrouei S and Bernstein JA and Aryani O and Snyder MP}, title = {Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia}, journal = {Cold Spring Harbor Molecular Case Studies}, volume = {4}, number = {1}, pages = {-}, year = {2018} }
RIS	TY - JOUR AU - Sailani MR AU - Chappell J AU - Jingga I AU - Narasimha A AU - Zia A AU - Lynch JL AU - Mazrouei S AU - Bernstein JA AU - Aryani O AU - Snyder MP TI - Wisp3 Mutation Associated With Pseudorheumatoid Dysplasia JO - Cold Spring Harbor Molecular Case Studies VL - 4 IS - 1 SP - EP - PY - 2018 ER -

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