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A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect by Cecilia L. S. Santos; Hennie Bikker; Katia G. M. Rego; Antonio C. Nascimento; Marcos Tambascia; Jan J. M. De Vijlder; Geraldo Medeiros-Neto is a Medicine article available to read on EtoBox.

What is A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect about?

## OBJECTIVE To screen and subsequently sequence the TPO gene for mutations in patients with congenital goitre, hypothyroidism and evidence for an organification defect (positive perchlorate discharge test). ## PATIENTS We have studied seven hypothyroid and congenitally goitrous patients from three unrelated families. ## DESIGN AND MEASUREMENTS We have measured serum thyroid hormone levels, ^131^I uptake, serum TSH and serum Tg concentrations. Denaturing gradient gel electrophoresis (DGGE) of PCR amplified genomic DNA was used to screen for mutations in the TPO gene. ## RESULTS DGGE identified the presence of two frameshift mutations: a GGCC duplication in exon 8 (homozygous in one family and heterozygous in the other family) and a heterozygous insertion of a single nucleotide (C) at position 2505‐2511 in exon 14. In addition, we have detected an alteration in exon 11, not yet described in the literature, derived from a single nucleotide substitution of a C to G at position 2008, altering the well‐conserved amino acid domain among the peroxidases superfamily. This mutation in exon 11 was present in two families that showed heterozygous mutation for exon 8 or for exon 14. ## CONCLUS

Who reads A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect?

Author

Cecilia L. S. Santos; Hennie Bikker; Katia G. M. Rego; Antonio C. Nascimento; Marcos Tambascia; Jan J. M. De Vijlder; Geraldo Medeiros-Neto

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley; Research Square (ISSN 0300-0664)

Published

1999

Language

EN

Field

Medicine (Health Sciences)