Phenotype: Arthropathy, progressive pseudorheumatoid, of childhood


OMIM: 208230
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

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WISP3 || c.156C>A

Gene/Locus:    WISP3
Dna Change:    c.156C>A
Protein Change:    p.Cys52X
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 3
Transcript:    NM_003880.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA3 patients/1 familyNATemiz F et al., 2011Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, . A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.. J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8

References

Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8