Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
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Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. / Dalal, Ashwin; Bhavani, G; Lakshmi, Sri; Bierhals, Tatjana; Bierhals, Tatjana; Nandineni, Madhusudan R; Danda, Sumita; Danda, Debashish; Shah, Hitesh; Vijayan, Sandeep; Gowrishankar, Kalpana; Phadke, Shubha R; Bidchol, Abdul Mueed; Rao, Anand Prahalad; Kutsche, Kerstin; Kutsche, Kerstin; Girisha, K M.
in: AM J MED GENET A, Jahrgang 158A, Nr. 11, 11, 2012, S. 2820-2828.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
AU - Dalal, Ashwin
AU - Bhavani, G
AU - Lakshmi, Sri
AU - Bierhals, Tatjana
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 - Kutsche, Kerstin
AU - Kutsche, Kerstin
AU - Girisha, K M
PY - 2012
Y1 - 2012
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.
AB - 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.
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Middle Aged
KW - Adolescent
KW - Young Adult
KW - Child
KW - Child, Preschool
KW - Infant
KW - Amino Acid Sequence
KW - Molecular Sequence Data
KW - Base Sequence
KW - Sequence Alignment
KW - Pedigree
KW - Consanguinity
KW - Family
KW - Gene Order
KW - Mutation
KW - Arthropathy, Neurogenic/genetics/radiography
KW - CCN Intercellular Signaling Proteins/chemistry/genetics
KW - European Continental Ancestry Group/genetics
KW - India
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Middle Aged
KW - Adolescent
KW - Young Adult
KW - Child
KW - Child, Preschool
KW - Infant
KW - Amino Acid Sequence
KW - Molecular Sequence Data
KW - Base Sequence
KW - Sequence Alignment
KW - Pedigree
KW - Consanguinity
KW - Family
KW - Gene Order
KW - Mutation
KW - Arthropathy, Neurogenic/genetics/radiography
KW - CCN Intercellular Signaling Proteins/chemistry/genetics
KW - European Continental Ancestry Group/genetics
KW - India
M3 - SCORING: Journal article
VL - 158A
SP - 2820
EP - 2828
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 11
M1 - 11
ER -
