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

Donáth, Judit, Balla, Bernadett, Pálinkás, Márton, Rásonyi, Rita, Vastag, Gyula ORCID: and Poór, Gyula ORCID: (2021) Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget’s Disease of Bone. CALCIFIED TISSUE INTERNATIONAL, 108 (2). pp. 159-164. DOI 10.1007/s00223-020-00758-4

PDF - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader

Official URL:


Paget’s disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB. However, there is no information on SQSTM1 mutation status in PDB patients from the Central- and Eastern-European regions. In this study, we conducted a mutation screening for SQSTM1 gene variants in 82 PDB patients and 100 control participants in Hungary. Mutations of SQSTM1 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 the SQSTM1 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 germline SQSTM1 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 mutant SQSTM1 genotype. However, our findings also underline and strengthen that not solely SQSTM1 stands in the background of the complex PDB etiology.

Item Type:Article
Subjects:Social welfare, insurance, health care
ID Code:7348
Deposited By: MTMT SWORD
Deposited On:28 Mar 2022 13:51
Last Modified:28 Mar 2022 13:51

Repository Staff Only: item control page


Downloads per month over past year

View more statistics