Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

Egyptian Journal of Medical Human Genetics

卷:18

Andoni Urtizberea¹  André Mégarbané²  Gérard Lefranc³  Nadia Leban⁴  Jemni Ben Chibani⁴  Amel Haj Khelil⁴  Moez Gribaa⁵  Ali Saad⁵  Leila Zouari⁶  Jaleleddine Dahmen⁶  Sandra Corbani⁷  Eliane Chouery⁷ 

[1] Centre de Référence Neuromusculaire GNMH, Filnemus Hôpital Marin de Hendaye, France;

[2] Institut Jérôme Lejeune, Paris, France;

[3] Institut de Génétique Humaine, UPR CNRS 1142, et Université de Montpellier, France;

[4] Laboratoire de Biochimie et de Biologie Moléculaire, Faculté de Pharmacie, Université de Monastir, Tunisia;

[5] Service de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction, CHU Farhat Hached, Faculté de Médecine, Université de Sousse, Tunisia;

[6] Service de Médecine Générale et de radiologie, CHU Farhat Hached, Université de Sousse, Sousse, Tunisia;

[7] Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon;

关键词: Bone;    Dysplasia;    Autosomal recessive;    Mutation;    WISP3;    Consanguinity;   

DOI  :  10.1016/j.ejmhg.2016.11.004

来源: DOAJ

【 摘 要 】

Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity are generally seen over time. This condition is caused by mutations of WISP3, a gene located on chromosome 6q21.Ten patients pertaining to 3 families originated from Tunisia, Morocco and Senegal, with progressive pseudorheumatoid dysplasia are described. Three exhibited marked muscle weakness resulting in delayed diagnosis. Genetic studies of WISP3 in these three consanguineous kindred identified two mutations, each at the homozygous state: c.624_625insA (p.C209Mfs*21), also named c.624dupA, in exon 4, in the Tunisian and Senegalese patients, and c.48+2dupT, a splice donor site mutation in intron 1, in the Moroccan patients.The clinical features and the molecular studies of the WISP3 gene are discussed.

【 授权许可】

Unknown