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

Overview of attention for article published in American Journal of Medical Genetics. Part A, September 2012
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Title
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Published in
American Journal of Medical Genetics. Part A, September 2012
DOI 10.1002/ajmg.a.35620
Pubmed ID
Authors

Ashwin Dalal, Sri Lakshmi Bhavani G, 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

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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Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 15%
Student > Master 4 12%
Other 3 9%
Student > Bachelor 3 9%
Professor > Associate Professor 3 9%
Other 5 15%
Unknown 11 32%
Readers by discipline Count As %
Medicine and Dentistry 10 29%
Biochemistry, Genetics and Molecular Biology 7 21%
Agricultural and Biological Sciences 5 15%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Unknown 10 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 September 2012.
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#20,726,842
of 25,461,852 outputs
Outputs from American Journal of Medical Genetics. Part A
#2,946
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Outputs of similar age
#147,945
of 189,276 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#34
of 59 outputs
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