Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget ’s Disease of Bone

In this study, we conducted a mutation screening forSQSTM1 gene variants in 82 PDB patients and 100 control participants in Hungary. Mutations ofSQSTM1 were detected in 18 PDB patients (21.95%); associations between genotype and clinical characteristics were also analyzed. Altogether, six different exonic alterations, including two types of UTR variants in theSQSTM1 gene, were observed in our PDB patients. Similarly, to previous genetic studies on Paget ’s disease, our most commonly detected variant was the c.1175C >  T (p.Pro392Leu) in nine cases (four in monostotic and five in polyostotic form). We have surveyed the germlineSQSTM1 variant distribution among Hungarian patients with PDB. We also highlighted that the pattern of the analyzed disease-associated pathophysiological parameters could partially discriminate PDB patients with normal or mutantSQSTM1 genotype. However, our findings also underline and strengthen that not solelySQSTM1 stands in the background of the complex PDB etiology.
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research