An argument for early genomic sequencing in atypical cases: A WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood

Rheumatology (United Kingdom)

Volumn 55, Issue 3, 2016, Pages 586-589

  Cassa, Christopher A ^a,b   Smith, Stacy E ^a,b   Docken, William ^a,b   Hoffman, Erin ^a   McLaughlin, Heather ^b,c   Chun, Sung ^a,b   Leshchiner, Ignaty ^a,b   Miraoui, Hichem ^a,b   Raychaudhuri, Soumya ^a,b   Frank, Natasha Y ^a,b,d,e   Wilson, Brian J ^d   Sunyaev, Shamil R ^a,b   Maas, Richard L ^a,b   Vuzman, Dana ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c LABORATORY FOR MOLECULAR MEDICINE   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e VA BOSTON HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

ADULT; ARTHROPATHY; CASE REPORT; CERVICAL SPINE; CODON; ELBOW; EXON; FAMILY HISTORY; FINGER; FLEXION CONTRACTURE; GENE SEQUENCE; HUMAN; INHERITANCE; JOINT CAVITY; KNEE REPLACEMENT; LETTER; LUMBAR SPINE; MALE; MUSCULOSKELETAL PAIN; NONSENSE MEDIATED MRNA DECAY; OSTEOPHYTE; PAKISTANI; PHENOTYPE; POLYARTHRITIS; PRIORITY JOURNAL; PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD; RANGE OF MOTION; SHOULDER; SPINE SURGERY; TOE; TOTAL HIP PROSTHESIS;

EID: 84965013999     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kev367     Document Type: Letter

References (4)

1. Dalal A, Bhavani G SL, Togarrati PP et al. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A 2012;158A:2820-8.
2. Garcia Segarra N, Mittaz L, Campos-Xavier AB et al. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet 2012;160C:217-29.
3. Ehl S, Uhl M, Berner R et al. Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int 2004;24:53-6.
4. Hurvitz JR, Suwairi WM, Van Hul W et al. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 1999;23:94-8.