Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp270 | Genetics | ECTS2013

SQSTM1/P392L post-zygotic mutations in unrelated patients with Paget's disease of bone

Guay-Belanger Sabrina , Gagnon Edith , Morissette Jean , Brown Jacques P , Michou Laetitia

Introduction: PagetÂ’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...