Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

M J Abramowicz; H M Targovnik; V Varela; P Cochaux; L Krawiec; M A Pisarev; F V Propato; G Juvenal; H A Chester; G Vassart

doi:10.1172/JCI115981

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Abramowicz, M. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Targovnik, H. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Varela, V. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Cochaux, P. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Krawiec, L. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Pisarev, M. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Propato, F. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Juvenal, G. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Chester, H. in: PubMed | Google Scholar

Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Free University of Brussels, Belgium.

Find articles by Vassart, G. in: PubMed | Google Scholar

Published in Volume 90, Issue 4 on October 1, 1992
J Clin Invest. 1992;90(4):1200–1204. https://doi.org/10.1172/JCI115981.
© 1992 The American Society for Clinical Investigation

Published October 1, 1992 - Version history

Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. We investigated an adopted boy with iodide organification defect, who presented with florid hypothyroidism at the age of 4 mo, poorly complied with thyroxine treatment, and developed a compressive goiter necessitating partial resection at the age of 12 yr. Biochemical studies revealed the absence of TPO activity in the resected tissue. Genomic DNA studies identified a 4 base-pair insertion in the eighth exon of the TPO gene, and showed that the patient was homozygous for this frameshift mutation. The direct genetic diagnosis of this mutation can be made by digestion of polymerase chain reaction products with NaeI restriction enzyme. This will help assessing its prevalence among the heterogenous genetic group of TPO defects.

Images.

Version 1 (October 1, 1992): No description

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

M J Abramowicz, H M Targovnik, V Varela, P Cochaux, L Krawiec, M A Pisarev, F V Propato, G Juvenal, H A Chester, and G Vassart

Article tools

Metrics

Go to

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

M J Abramowicz, H M Targovnik, V Varela, P Cochaux, L Krawiec, M A Pisarev, F V Propato, G Juvenal, H A Chester, and G Vassart

Article tools

Metrics

Go to

Sign up for email alerts