Progressive pseudorheumatoid dysplasia: report of a family and review.

El-Shanti, Hatem; Omari, Habib; Qubain, H.

doi:10.1136/jmg.34.7.559

Cited by 57 publications

(48 citation statements)

References 17 publications

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“…On the other hand, the current height of each patient is near or less than the 3rd percentile of the mean height of normal children. The reduction in height is explained by the progressive contraction in the hips as well as the spinal deformity (12). Patients with PPD typically receive no significant benefit from treatment with nonsteroidal anti-inflammatory drugs (NSAIDs).…”

Section: Discussionmentioning

confidence: 99%

Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies

Zhang

Qiu

et al. 2011

Mol Med Report

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Abstract. Progressive pseudorheumatoid dysplasia (PPD) is a rare inherited autosomal recessive disease for which no prevalent data have been reported in China. We aimed to identify PPD based on clinical manifestations and imaging analysis of the bony skeleton and then to investigate gene mutations of Wnt1-inducible signaling pathway protein 3 (WISP3) in Chinese patients with PPD. Seven patients (aged 9-49 years) from six unrelated Chinese families all presented with a waddling gait, progressive swelling and restricted joint movements, and all were diagnosed as having PPD according to clinical signs and symptoms, as well as radiographic imaging. The radiographic imaging revealed no erosive arthropathy, but showed platyspondyly, irregular or wedged/ovoid anterior end-plates of the vertebral bodies, coxa vara and widened epiphyses or metaphyses including the femoral head and the metacarpophalangeal and interphalangeal joints. Normal laboratory values were found for the erythrocyte sedimentation rate, C-reactive protein and rheumatoid factors in all patients. Molecular studies revealed that five patients carried c.624_625insA/c.729_735delGAGAAAA, c.624_625insA/ c.866_867insA, c.866_867 insA/c.866_867insA, Q46X/ C114W and C223G/C114W mutations, respectively. In conclusion, our findings suggest that in order to avoid misdiagnosis, physicians should carefully examine the entire skeleton, including the spine, in addition to the skeletal extremities. Mutation analysis of the WISP3 gene is useful for confirming the clinical and radiographic diagnosis of PPD.

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Section: Discussionmentioning

confidence: 99%

Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies

Zhang

Qiu

et al. 2011

Mol Med Report

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“…20 Although there is no direct evidence, the clinical and radiographic pictures of PPD suggest an alteration in the endochondral ossification process. 3 Secondly collagen type X null mice, examined grossly till six months old and histologically not later than 3 weeks, show normal long bone growth with occasional cervical spine abnormality. 21 The clinical picture of PPD includes normal long bone length and spine abnormalities similar to the collagen type X null mouse.…”

Section: Discussionmentioning

confidence: 99%

“…3 The gene encoding type X collagen (COL10A1) became a candidate gene for this disorder by virtue of its location to the same chromosomal region. 18,19 In addition several observations about collagen type X strengthens its candidacy.…”

Section: Discussionmentioning

confidence: 99%

“…2 A review of the published reports clearly identifies its autosomal recessive inheritance and its relative high occurrence among Arabs and other Mediterranean populations. 3 The prevalence of consanguinity among Jordanians makes it possible to identify inbred families with rare recessive disorders, such that each family is independently large enough for linkage analysis. 4,5 In one family, individuals with a rare recessive disease are likely to have inherited both copies of the mutated gene from a common ancestor, thus allowing homozygosity mapping by the DNA pooling approach.…”

Section: Introductionmentioning

confidence: 99%

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Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

et al. 1998

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Progressive pseudorheumatoid dysplasia is an autosomal recessive skeletal dysplasia with radiographic changes in the spine similar to Spondyloepiphyseal dysplasia tarda and clinical, though not radiographic resemblance to rheumatoid arthritis. About two-thirds of the reported patients are of Arabic and Mediterranean origin which reflects the relative high incidence in this population. We performed homozygosity mapping utilising the DNA pooling approach to map progressive pseudorheumatoid dysplasia to a chromosomal region on the long arm of chromosome 6. We examined a possible candidate gene in the same region of linkage, namely COL10A1, for alterations in this disorder. We did not identify any mutations in our family, but did not totally exclude COL10A1 gene from being the disease-causing gene.

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“…PPD is a spondylo-epiphyseal dysplasia that becomes clinically apparent between 3 and 8 years of age and leads to joint failure by young adulthood (2)(3)(4)(5). Histologic examination of cartilage at the time of joint replacement surgery reveals changes that resemble common, end-stage osteoarthritis (2).…”

Section: Introductionmentioning

confidence: 99%

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

Nakamura¹,

Weidinger²,

Liang³

et al. 2007

J. Clin. Invest.

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In humans, loss-of-function mutations in the gene encoding Wnt1 inducible signaling pathway protein 3 (WISP3) cause the autosomal-recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD). However, in mice there is no apparent phenotype caused by Wisp3 deficiency or overexpression. Consequently, the in vivo activities of Wisp3 have remained elusive. We cloned the zebrafish ortholog of Wisp3 and investigated its biologic activity in vivo using gain-of-function and loss-of-function approaches. Overexpression of zebrafish Wisp3 protein inhibited bone morphogenetic protein (BMP) and Wnt signaling in developing zebrafish. Conditioned medium-containing zebrafish and human Wisp3 also inhibited BMP and Wnt signaling in mammalian cells by binding to BMP ligand and to the Wnt coreceptors low-density lipoprotein receptor-related protein 6 (LRP6) and Frizzled, respectively. Wisp3 proteins containing disease-causing amino acid substitutions found in patients with PPD had reduced activity in these assays. Morpholino-mediated inhibition of zebrafish Wisp3 protein expression in developing zebrafish affected pharyngeal cartilage size and shape. These data provide a biologic assay for Wisp3, reveal a role for Wisp3 during zebrafish cartilage development, and suggest that dysregulation of BMP and/or Wnt signaling contributes to cartilage failure in humans with PPD.

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Progressive pseudorheumatoid dysplasia: report of a family and review.

Cited by 57 publications

References 17 publications

Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies

Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies

Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

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