help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Bikker, H.
Right arrow Articles by de Vijlder, J. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bikker, H.
Right arrow Articles by de Vijlder, J. J.

Journal of Clinical Endocrinology & Metabolism, Vol 79, 248-252, Copyright © 1994 by Endocrine Society

ARTICLES

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

H Bikker, MT den Hartog, F Baas, MH Gons, T Vulsma and JJ de Vijlder
Children's Hospital EKZ, het kinder AMC, Amsterdam, The Netherlands.

In this study we present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the patient, thyroid peroxidase (TPO) activity and the iodination degree of thyroglobulin were below detection limits, and no TPO messenger ribonucleic acid was detectable by Northern blot analysis. Denaturing gradient gel electrophoretic analysis of the TPO gene of the patient revealed a homozygous mutation in exon 2. Sequence analysis showed the presence of a 20-basepair duplication, 47 basepairs down-stream of the ATG start codon. This duplication generates a frame shift, resulting in a termination signal in exon 3, compatible with the complete absence of TPO. Both parents of the patient are heterozygous for the same duplication, confirming the recessive mode of inheritance of the mutation.


This article has been cited by other articles:


Home page
 Eur J EndocrinolHome page
M. Avbelj, H. Tahirovic, M. Debeljak, M. Kusekova, A. Toromanovic, C. Krzisnik, and T. Battelino
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
Eur. J. Endocrinol., May 1, 2007; 156(5): 511 - 519.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. S. Alzahrani, E. Y. Baitei, M. Zou, and Y. Shi
Metastatic Follicular Thyroid Carcinoma Arising from Congenital Goiter as a Result of a Novel Splice Donor Site Mutation in the Thyroglobulin Gene
J. Clin. Endocrinol. Metab., March 1, 2006; 91(3): 740 - 746.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
K. Krohn, D. Fuhrer, Y. Bayer, M. Eszlinger, V. Brauer, S. Neumann, and R. Paschke
Molecular Pathogenesis of Euthyroid and Toxic Multinodular Goiter
Endocr. Rev., June 1, 2005; 26(4): 504 - 524.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S M Park and V K K Chatterjee
Genetics of congenital hypothyroidism
J. Med. Genet., May 1, 2005; 42(5): 379 - 389.
[Abstract] [Full Text] [PDF]

Home page
 Eur J EndocrinolHome page
C. Rodrigues, P. Jorge, J. P. Soares, I. Santos, R. Salomao, M. Madeira, R. V. Osorio, and R. Santos
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism
Eur. J. Endocrinol., February 1, 2005; 152(2): 193 - 198.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
P. Caron, C. M. Moya, D. Malet, V. J. Gutnisky, B. Chabardes, C. M. Rivolta, and H. M. Targovnik
Compound Heterozygous Mutations in the Thyroglobulin Gene (1143delC and 6725G->A [R2223H]) Resulting in Fetal Goitrous Hypothyroidism
J. Clin. Endocrinol. Metab., August 1, 2003; 88(8): 3546 - 3553.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
L. Fugazzola, N. Cerutti, D. Mannavola, G. Vannucchi, C. Fallini, L. Persani, and P. Beck-Peccoz
Monoallelic Expression of Mutant Thyroid Peroxidase Allele Causing Total Iodide Organification Defect
J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 3264 - 3271.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
B. Bakker, H. Bikker, R. C. M. Hennekam, E. J. P. Lommen, M. G. J. Schipper, T. Vulsma, and J. J. M. de Vijlder
Maternal Isodisomy for Chromosome 2p Causing Severe Congenital Hypothyroidism
J. Clin. Endocrinol. Metab., March 1, 2001; 86(3): 1164 - 1168.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
B. Bakker, H. Bikker, T. Vulsma, J. S. E. de Randamie, B. M. Wiedijk, and J. J. M. de Vijlder
Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)
J. Clin. Endocrinol. Metab., October 1, 2000; 85(10): 3708 - 3712.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
S. Neumann, H. Willgerodt, F. Ackermann, A. Reske, M. Jung, A. Reis, and R. Paschke
Linkage of Familial Euthyroid Goiter to the Multinodular Goiter-1 Locus and Exclusion of the Candidate Genes Thyroglobulin, Thyroperoxidase, and Na+/I- Symporter
J. Clin. Endocrinol. Metab., October 1, 1999; 84(10): 3750 - 3756.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
H. Bikker, F. Baas, and J. J. M. de Vijlder
Molecular Analysis of Mutated Thyroid Peroxidase Detected in Patients with Total Iodide Organification Defects
J. Clin. Endocrinol. Metab., February 1, 1997; 82(2): 649 - 653.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 1994 by The Endocrine Society