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Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect by Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Judith Fischer; Ephrat Levy-Lahad; J. Andoni Urtizberea; André Mégarbané is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is caused by mutations of the __WISP3__ gene located on chromosome 6q22. We hereby report the molecular study of the __WISP3__ gene in nine unrelated consanguineous families originating from the Middle‐East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. Five different sequence variations were identified in the __WISP3__ gene, two of them being new mutations: the c.589G → C transversion at codon 197, responsible for a splicing defect (A197fsX201); and the c.536\_537delGT deletion (C179fsX), both in exon 3. In all other families, the affected patients were homozygous for a previously described nonsense mutation, namely c.156C → A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G → A (G83E) variation, suggesting the existence of a founder effect. © 2005 Wiley‐Liss, Inc.

Who reads Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect?

Author

Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Judith Fischer; Ephrat Levy-Lahad; J. Andoni Urtizberea; André Mégarbané

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)