Progressive pseudorheumatoid dysplasia

2000 ◽  
Vol 10 (11) ◽  
pp. 1832-1835 ◽  
Author(s):  
S. Mampaey ◽  
F. Vanhoenacker ◽  
K. Boven ◽  
W. Van Hul ◽  
A. De Schepper
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia

Progressive pseudorheumatoid dysplasia: radiographic evolution over 20 years

2021 ◽  
Author(s):  
Jacopo Ciaffi ◽  
Elena Borlandelli ◽  
Giancarlo Facchini ◽  
Marco Miceli ◽  
Riccardo Meliconi ◽  
...  
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia

scholarly journals NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

2015 ◽  
Vol 36 (10) ◽  
pp. 1004-1008 ◽  
Author(s):  
Julie Jurgens ◽  
Nara Sobreira ◽  
Peggy Modaff ◽  
Catherine A. Reiser ◽  
Soo Hyun Seo ◽  
...  
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia ◽  
Spondyloepiphyseal Dysplasia

Progressive pseudorheumatoid dysplasia: a rare childhood disease

2018 ◽  
Vol 39 (3) ◽  
pp. 441-452 ◽  
Author(s):  
Sofia Torreggiani ◽  
Marta Torcoletti ◽  
Belinda Campos-Xavier ◽  
Francesco Baldo ◽  
Carlo Agostoni ◽  
...  
Keyword(s):  
Childhood Disease ◽  
Progressive Pseudorheumatoid Dysplasia

scholarly journals Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

2021 ◽  
Vol 12 ◽  
Author(s):  
Harsh Sheth ◽  
Jhanvi Shah ◽  
Aadhira Nair ◽  
Premal Naik ◽  
Jayesh Sheth
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Missense Variant ◽  
Community Analysis ◽  
Gait Disturbance ◽  
Mutant Genotype ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
First Case ◽  
Abnormal Posture ◽  
Biallelic Mutations

Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder—progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnormal posture, and absence of inflammation, resulting in significant morbidity. The largest case series of PPD from India suggests c.233G>A and c.1010G>A to be the most common mutations in the CCN6 gene, although the distribution of these variants among endogamous communities in India has not been carried out. We here report three cases of PPD from three independent families belonging to the Patni community of Gujarat, a community known to practice endogamy. All three cases had short stature, gait disturbance, scoliosis, and interphalangeal joint deformities. Analysis by whole-exome sequencing in the first case showed the presence of a previously known, homozygous, missense variant c.298T>A (p.Cys100Ser) in exon 3 of the CCN6 gene in all cases. Due to all three families belonging to the same community, analysis by Sanger sequencing in the remaining two cases for the variant mentioned earlier showed both cases to be of homozygous mutant genotype. Unaffected family members, i.e., parents and siblings, were either heterozygous carriers or wildtype for the said variant. The present case series is the first report of a recurrent variant occurring across multiple PPD-affected individuals from unrelated families belonging to the same community from India.

High Circulating Levels of IL-4 and IL-10 in Progressive Pseudorheumatoid Dysplasia Patient

2019 ◽  
Vol 26 (6) ◽  
pp. e164-e166
Author(s):  
Paolo Dolzani ◽  
Jacopo Ciaffi ◽  
Elisa Assirelli ◽  
Lia Pulsatelli ◽  
Olga Addimanda ◽  
...  
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia ◽  
Circulating Levels

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

10.1038/12699 ◽  
1999 ◽  
Vol 23 (1) ◽  
pp. 94-98 ◽  
Author(s):  
Jennifer R. Hurvitz ◽  
Wafaa M. Suwairi ◽  
Wim Van Hul ◽  
Hatem El-Shanti ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Gene Family ◽  
Family Member ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
Gene Family Member
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