TARGOVNIK Hector Manuel
Mutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto.
NEVES, SOLANGE CAIRES ; MEZALIRA, PAOLA ROSSI ; DIAS, VERA M. A. ; CHAGAS, ANTONIO J. ; VIANA, MARIA ; TARGOVNIK , HÉCTOR MANUEL; KNOBEL, MEYER; MEDEIROS-NETO, GERALDO; RUBIO, ILEANA G.S.
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Lugar: São Paulo; Año: 2010 vol. 54 p. 732 - 732
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO promoter were sequenced. Molecular analysis of patients DNA identified the heterozygous duplication GGCC (c.1186_1187insGGCC) in exon 8 of the TPO gene. No additional mutation was detected either in the TPO gene, TPO promoter, DUOX2 or DUOXA2 genes. We have described a patient with a clear TIOD causing severe goitrous CH due to a monoallelic TPO mutation. A plausible explanation for the association between an autosomal recessive disorder with a single TPO-mutated allele is the presence of monoallelic TPO expression.