Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations.

ABSTRACT:

Purpose

Paget's disease of bone (PDB) is a focal metabolic bone disorder characterized by an increased bone remodeling. Fifteen to 40 % of PDB patients have a familial form with an autosomal dominant inheritance. Disease-causing mutations of the SQSTM1 gene have been linked to PDB in about 40 % of families whereas genes linked to the remaining families are unknown. Several single nucleotide polymorphisms (SNPs) have been associated with PDB in unrelated patient non-carriers of a SQSTM1 mutation. The current clinical practice guidelines still recommend the measure of serum total alkaline phosphatase (sALP) for PDB screening. In unrelated individual non-carriers of SQSTM1 mutations, we previously developed a genetic test combining male sex with five genetic marke

SUBMITTER: You Y 

PROVIDER: S-EPMC10006713 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature