The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study.

ABSTRACT: This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (OCs) through imaging studies and physical examinations. However, cases with both OCs and enchondromas (ECs) may indicate the more rare condition metachondromatosis (MC), which is assumed to be distinct disease. Previous cohort studies of MO found heterozygous loss-of-function (LoF) variants only in the EXT1 or EXT2 genes, with DNA diagnostic yield ranging from 78 to 95%. The PTPN11 gene, which is causative for MC, was not previously investigated as a gene candidate for MO. In this study, we detected a total of 177 uniq

SUBMITTER: Borovikov A 

PROVIDER: S-EPMC11918999 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature