Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.

Teebi, Ahmad S.; Awadi, S A Al

doi:10.1136/jmg.23.2.189-a

Cited by 37 publications

(28 citation statements)

References 3 publications

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“…DISCUSSION PPD is a rare universal genetic disease even though many case reports originate from the Mediterranean countries and the Middle-East [Laplane et al, 1972;Perri, 1981;Spranger et al, 1983;Al-Awadi et al, 1984;Chaabouni et al, 1986;Teebi and Al Awadi, 1986;Robinson et al, 1989;Lewkonia and BechHansen, 1992;Legius et al, 1993;Rasore-Quartino et al, 1993; El- Shanti et al, 1997b;Fischer et al, 1998;Hurvitz et al, 1999]. It often mimics early juvenile rheumatoid arthritis [Wynne-Davies et al, 1982;Spranger et al, 1983], the latter being a common cause of misdiagnosis.…”

Section: Molecular Findingsmentioning

confidence: 97%

“…Progressive pseudorheumatoid dysplasia (PPD), also referred to as spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) or Progressive pseudorheumatoid arthritis of childhood (PPAC) (OMIM 222600) is an autosomal recessive skeletal disorder particularly frequent in endogamic communities [Teebi and Al Awadi, 1986]. It is characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints-notably in the hips, knees, wrists and fingers-osteoporosis, and the absence of destructive bone changes.…”

Section: Introductionmentioning

confidence: 99%

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Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Delague

Chouery

Corbani

et al. 2005

American J of Med Genetics Pt A

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Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is caused by mutations of the WISP3 gene located on chromosome 6q22. We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. Five different sequence variations were identified in the WISP3 gene, two of them being new mutations: the c.589G --> C transversion at codon 197, responsible for a splicing defect (A197fsX201); and the c.536_537delGT deletion (C179fsX), both in exon 3. In all other families, the affected patients were homozygous for a previously described nonsense mutation, namely c.156C --> A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G --> A (G83E) variation, suggesting the existence of a founder effect.

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Section: Molecular Findingsmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Delague

Chouery

Corbani

et al. 2005

American J of Med Genetics Pt A

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“…'other spondyloepi-(meta)-physeal [SE(M)D] dysplasias' (1). The incidence of PPD has been estimated at 1 individual per million in the UK (2), but it is likely to be higher in the Mediterranean, Middle East and Gulf states (3,4). No prevalent data on the Chinese population have been reported as yet.…”

Section: Introductionmentioning

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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“…Most of the reported patients were from Mediterranean and Arabic countries, where consanguinity is common [12]. Further investigation is required in order to detect the frequency of this disorder.…”

Section: Discussionmentioning

confidence: 96%