Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Ashwin Dalal, Sri Lakshmi Bhavani, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R. Phadke, Abdul Mueed Bidchol, Anand Prahalad Rao, Sheela Nampoothiri, Kerstin Kutsche, K. M. Girisha

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Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked into the spectrum of mutations causing PPD. We report on clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia. Families with at least one member showing clinical and radiologic features of PPD were recruited for the study. Symptoms, signs and radiographic findings were documented in 35 patients from 25 unrelated families. Swelling of small joints of hands and contractures are the most common presenting features. Mutation analysis was carried out by bidirectional sequencing of the WISP3 gene in all 35 patients. We summarize the clinical features of 35 patients with PPD and report on 11 different homozygous mutations and one instance of compound heterozygosity. Eight (c.233G>A, c.340T>C, c.348C>A, c.433T>C, c.682T>C, c.802T>G, c.947_951delAATTT, and c.1010G>A) are novel mutations and three (c.156C>A, c.248G>A, and c.739_740delTG) have been reported previously. One missense mutation (c.1010G>A; p.Cys337Tyr) appears to be the most common in our population being seen in 10 unrelated families. This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. We also review all the mutations reported in WISP3 till date.

Original languageEnglish
Pages (from-to)2820-2828
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number11
DOIs
Publication statusPublished - 11-2012

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Mutation
Genes
Hand Joints
Osteochondrodysplasias
Arthropathy, progressive pseudorheumatoid, of childhood
Contracture
Missense Mutation
Osteoporosis
Signs and Symptoms
India
Joints
Pain
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Dalal, Ashwin ; Bhavani, Sri Lakshmi ; Togarrati, Padma Priya ; Bierhals, Tatjana ; Nandineni, Madhusudan R. ; Danda, Sumita ; Danda, Debashish ; Shah, Hitesh ; Vijayan, Sandeep ; Gowrishankar, Kalpana ; Phadke, Shubha R. ; Bidchol, Abdul Mueed ; Rao, Anand Prahalad ; Nampoothiri, Sheela ; Kutsche, Kerstin ; Girisha, K. M. / Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 11. pp. 2820-2828.
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abstract = "Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked into the spectrum of mutations causing PPD. We report on clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia. Families with at least one member showing clinical and radiologic features of PPD were recruited for the study. Symptoms, signs and radiographic findings were documented in 35 patients from 25 unrelated families. Swelling of small joints of hands and contractures are the most common presenting features. Mutation analysis was carried out by bidirectional sequencing of the WISP3 gene in all 35 patients. We summarize the clinical features of 35 patients with PPD and report on 11 different homozygous mutations and one instance of compound heterozygosity. Eight (c.233G>A, c.340T>C, c.348C>A, c.433T>C, c.682T>C, c.802T>G, c.947_951delAATTT, and c.1010G>A) are novel mutations and three (c.156C>A, c.248G>A, and c.739_740delTG) have been reported previously. One missense mutation (c.1010G>A; p.Cys337Tyr) appears to be the most common in our population being seen in 10 unrelated families. This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. We also review all the mutations reported in WISP3 till date.",
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Dalal, A, Bhavani, SL, Togarrati, PP, Bierhals, T, Nandineni, MR, Danda, S, Danda, D, Shah, H, Vijayan, S, Gowrishankar, K, Phadke, SR, Bidchol, AM, Rao, AP, Nampoothiri, S, Kutsche, K & Girisha, KM 2012, 'Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia', American Journal of Medical Genetics, Part A, vol. 158 A, no. 11, pp. 2820-2828. https://doi.org/10.1002/ajmg.a.35620

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. / Dalal, Ashwin; Bhavani, Sri Lakshmi; Togarrati, Padma Priya; Bierhals, Tatjana; Nandineni, Madhusudan R.; Danda, Sumita; Danda, Debashish; Shah, Hitesh; Vijayan, Sandeep; Gowrishankar, Kalpana; Phadke, Shubha R.; Bidchol, Abdul Mueed; Rao, Anand Prahalad; Nampoothiri, Sheela; Kutsche, Kerstin; Girisha, K. M.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 11, 11.2012, p. 2820-2828.

Research output: Contribution to journalArticle

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T1 - Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

AU - Dalal, Ashwin

AU - Bhavani, Sri Lakshmi

AU - Togarrati, Padma Priya

AU - Bierhals, Tatjana

AU - Nandineni, Madhusudan R.

AU - Danda, Sumita

AU - Danda, Debashish

AU - Shah, Hitesh

AU - Vijayan, Sandeep

AU - Gowrishankar, Kalpana

AU - Phadke, Shubha R.

AU - Bidchol, Abdul Mueed

AU - Rao, Anand Prahalad

AU - Nampoothiri, Sheela

AU - Kutsche, Kerstin

AU - Girisha, K. M.

PY - 2012/11

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N2 - Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked into the spectrum of mutations causing PPD. We report on clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia. Families with at least one member showing clinical and radiologic features of PPD were recruited for the study. Symptoms, signs and radiographic findings were documented in 35 patients from 25 unrelated families. Swelling of small joints of hands and contractures are the most common presenting features. Mutation analysis was carried out by bidirectional sequencing of the WISP3 gene in all 35 patients. We summarize the clinical features of 35 patients with PPD and report on 11 different homozygous mutations and one instance of compound heterozygosity. Eight (c.233G>A, c.340T>C, c.348C>A, c.433T>C, c.682T>C, c.802T>G, c.947_951delAATTT, and c.1010G>A) are novel mutations and three (c.156C>A, c.248G>A, and c.739_740delTG) have been reported previously. One missense mutation (c.1010G>A; p.Cys337Tyr) appears to be the most common in our population being seen in 10 unrelated families. This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. We also review all the mutations reported in WISP3 till date.

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