PMID- 10471507
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20191023
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 1
DP  - 1999 Sep
TI  - Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid 
      dysplasia.
PG  - 94-8
AB  - Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich 
      secreted proteins with roles in cell growth and differentiation. Cell-specific
      and tissue-specific differences in the expression and function of different CCN
      family members suggest they have non-redundant roles. Using a
      positional-candidate approach, we found that mutations in the CCN family member
      WISP3 are associated with the autosomal recessive skeletal disorder progressive
      pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive
      disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis. Its
      population incidence has been estimated at 1 per million in the United Kingdom,
      but it is likely to be higher in the Middle East and Gulf States. Affected
      individuals are asymptomatic in early childhood. Signs and symptoms of disease
      typically develop between three and eight years of age. Clinically and
      radiographically, patients experience continued cartilage loss and destructive
      bone changes as they age, in several instances necessitating joint replacement
      surgery by the third decade of life. Extraskeletal manifestations have not been
      reported in PPD. Cartilage appears to be the primary affected tissue, and in one 
      patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and 
      loss of normal cell columnar organization in growth zones. We have identified
      nine different WISP3 mutations in unrelated, affected individuals, indicating
      that the gene is essential for normal post-natal skeletal growth and cartilage
      homeostasis.
FAU - Hurvitz, J R
AU  - Hurvitz JR
AD  - Department of Genetics and Center for Human Genetics, Case Western Reserve
      University School of Medicine and University Hospitals of Cleveland, Cleveland,
      Ohio 44106, USA.
FAU - Suwairi, W M
AU  - Suwairi WM
FAU - Van Hul, W
AU  - Van Hul W
FAU - El-Shanti, H
AU  - El-Shanti H
FAU - Superti-Furga, A
AU  - Superti-Furga A
FAU - Roudier, J
AU  - Roudier J
FAU - Holderbaum, D
AU  - Holderbaum D
FAU - Pauli, R M
AU  - Pauli RM
FAU - Herd, J K
AU  - Herd JK
FAU - Van Hul, E V
AU  - Van Hul EV
FAU - Rezai-Delui, H
AU  - Rezai-Delui H
FAU - Legius, E
AU  - Legius E
FAU - Le Merrer, M
AU  - Le Merrer M
FAU - Al-Alami, J
AU  - Al-Alami J
FAU - Bahabri, S A
AU  - Bahabri SA
FAU - Warman, M L
AU  - Warman ML
LA  - eng
SI  - GENBANK/AA592984
SI  - GENBANK/AF100781
SI  - GENBANK/Z99289
GR  - AR43827/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (CCN Intercellular Signaling Proteins)
RN  - 0 (CCN2 protein, human)
RN  - 0 (CCN3 protein, human)
RN  - 0 (CCN4 protein, human)
RN  - 0 (Growth Substances)
RN  - 0 (Immediate-Early Proteins)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Nephroblastoma Overexpressed Protein)
RN  - 0 (Oncogene Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 139568-91-5 (Connective Tissue Growth Factor)
SB  - IM
MH  - Adolescent
MH  - Bone and Bones/physiology
MH  - CCN Intercellular Signaling Proteins
MH  - Cartilage/growth & development/physiology
MH  - Chromosomes, Human, Pair 6
MH  - Connective Tissue Growth Factor
MH  - Growth Substances/*genetics
MH  - Hand/diagnostic imaging
MH  - Haplotypes
MH  - Humans
MH  - *Immediate-Early Proteins
MH  - *Intercellular Signaling Peptides and Proteins
MH  - Intracellular Signaling Peptides and Proteins
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Nephroblastoma Overexpressed Protein
MH  - *Oncogene Proteins
MH  - Osteochondrodysplasias/diagnostic imaging/*genetics
MH  - Proto-Oncogene Proteins
MH  - Radiography
EDAT- 1999/09/02 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/09/02 09:00
PHST- 1999/09/02 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/09/02 09:00 [entrez]
AID - 10.1038/12699 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Sep;23(1):94-8. doi: 10.1038/12699.