hrp0084p1-131 | Thyroid | ESPE2015

Increased Detection Rate of Paired Box Domain Gene Mutations by Application of Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Primary Congenital Hypothyroidism and Thyroid Dysgenesis

Kumorowicz-Czoch Malgorzata , Hermanns Pia , Madetko-Talowska Anna , Pohlenz Joahim

Background: The contribution of mutations in paired box domain (PAX8) gene in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) still remains a subject of interest of researchers. While quantitative PCR and direct sequencing concentrate on single gene fragment analysis and identification of point mutations, multiplex ligation-dependent probe amplification (MLPA) analysis might improve the detection rate of PAX8 mutations in patients wit...