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Open Access

The mutation P392L of the sequestosome 1 gene in Paget's disease of bone is frequent in the French population

  • L Michou1,
  • JL Laplanche2,
  • P Orcel3,
  • P Hilliquin4,
  • N Philip6,
  • J Roudier7,
  • P Quillet5,
  • T Bardin1, 3,
  • JM Launay2 and
  • F Cornélis1
Arthritis Res Ther20035(Suppl 1):79

Received: 14 January 2003

Published: 24 February 2003


Genetic TestingEuropean PopulationCaucasian PopulationGenetic HeterogeneityCaucasian Patient


Paget's disease of bone (PDB) is a chronic disease of the skeleton that affects 3% of the Caucasian population aged over 40 years. PDB often segregates as an autosomal dominant trait. Genetic heterogeneity has been demonstrated, with at least 2 PDB loci, on chromosomes 18 (18q23) and 5 (5q35-qter). At the chromosome 5 locus, (Laurin et al. Am J Hum Genet 2002; 70:1582–1588) identified in the sequestosome 1 (SQSTM1) gene, involved in the RANK (receptor activator of NF-κB) pathway, a recurrent mutation (P392L) present in 16% of the sporadic PDB patients in the French Canadian population. Genetic testing is clinically relevant, as it could lead, in families carrying the mutation, to early diagnosis at the clinically asymptomatic stage, when early treatment could be attempted to prevent complications. However, it is not known whether this mutation is specific to the Cana-dian population or is frequent in other Caucasian populations.


To evaluate the frequency of the SQSTM1 P392L mutation in the French Caucasian population.


Nineteen French Caucasian patients with sporadic PDB underwent genetic testing. The search for the mutation relied on a PCR-RFLP assay.


The P392L mutation of SQSTM1 was detected in 2 patients out of 19 (11%).


The P392L mutation of the SQSTM1 gene in PDB is frequent in the French Caucasian population. Investigation of other European populations would be of interest. Genetic testing of PDB patients in France is indicated, aiming at early diagnosis in relatives of patients carrying the mutation.

Authors’ Affiliations

Unité de Génétique Clinique, Hôpital Lariboisière, Paris, France
Service de Biochimie, Hôpital Lariboisière, Paris, France
Fédération de Rhumatologie, Hôpital Lariboisière, Paris, France
Service de Rhumatologie, Centre Hospitalier Sud Francilien, Corbeil Essonne, France
Laboratoire de Biologie, Centre Hospitalier Sud Francilien, Corbeil Essonne, France
Service de Génétique, Hôpital de la Timone, Marseille, France
INSERM E 9940, Faculté de médecine, Marseille, France


© The Author(s) 2003