scholarly journals High Prevalence of a Novel Mutation (2268 insT) of the Thyroid Peroxidase Gene in Taiwanese Patients with Total Iodide Organification Defect, and Evidence for a Founder Effect

2002 ◽  
Vol 87 (9) ◽  
pp. 4208-4212 ◽  
Author(s):  
Dau-Ming Niu ◽  
Betau Hwang ◽  
Yum-Kung Chu ◽  
Chun-Ju Liao ◽  
Pei-Ling Wang ◽  
...  
Keyword(s):  
Founder Effect ◽  
Novel Mutation ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
High Prevalence ◽  
Iodide Organification Defect ◽  
Organification Defect

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings

2003 ◽  
Vol 59 (2) ◽  
pp. 198-206 ◽  
Author(s):  
Tomio Kotani ◽  
Kazumi Umeki ◽  
Jun-ichi Kawano ◽  
Tatsuo Suganuma ◽  
Akira Hishinuma ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Iodide Organification Defect ◽  
Organification Defect

scholarly journals Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect

2003 ◽  
Vol 22 (3) ◽  
pp. 259-259 ◽  
Author(s):  
Carina M. Rivolta ◽  
Sebastián A. Esperante ◽  
Laura Gruñeiro-Papendieck ◽  
Ana Chiesa ◽  
Christian M. Moya ◽  
...  
Keyword(s):  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Congenital Goiter ◽  
Iodide Organification Defect ◽  
Organification Defect ◽  
Inactivating Mutations

scholarly journals A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect

1999 ◽  
Vol 160 (2) ◽  
pp. 267-273 ◽  
Author(s):  
T Kotani ◽  
K Umeki ◽  
I Yamamoto ◽  
H Maesaka ◽  
K Tachibana ◽  
...  
Keyword(s):  
Northern Blot Analysis ◽  
Novel Mutation ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Wild Type ◽  
Normal Thyroid ◽  
Mrna Transfection ◽  
Human Thyroid Peroxidase ◽  
Iodide Organification Defect ◽  
Organification Defect

In this study we describe a novel mutation of the thyroid peroxidase (TPO) gene that resulted in a total iodide organification defect. TPO activity and thyroxine formation in thyroglobulin in the thyroid gland of the patient were below the limits of detection. However, TPO mRNA was detectable at a similar size and concentration as compared with normal thyroid tissues when measured by Northern blot analysis. Sequence analysis of the TPO gene showed the presence of two mutations, a missense mutation in exon 7 and C insertion in exon 14. These mutations were heterozygous and located in different alleles. The latter mutation has already been reported as one of the mutations of the TPO gene resulting in total iodide organification defect. The former mutation was further analysed by mRNA transfection studies in which mutated mRNA was transfected to CHO-K1 cells by electroporation. The results of transfection studies showed that the cells transfected with mutated mRNA expressed similar size TPO molecules to those of cells transfected with wild-type mRNA but that they lacked TPO activity. The two mutations of the TPO gene resulting in the total iodide organification defect in the patient cosegregated from her parents.

scholarly journals Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

2005 ◽  
Vol 152 (2) ◽  
pp. 193-198 ◽  
Author(s):  
Carina Rodrigues ◽  
Paula Jorge ◽  
José Pires Soares ◽  
Isaura Santos ◽  
Regina Salomão ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Mutation Screening ◽  
Gene Mutations ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Molecular Testing ◽  
Missense Mutations ◽  
Human Thyroid Peroxidase ◽  
Iodide Organification Defect ◽  
Organification Defect

Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1–17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. Results: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T > C (S131P), 1274A > G (N425S) and 2512T > A (C838S), as well as the predictable splice mutation 2748G > A (Q916Q/spl?). The undocumented polymorphism 180-47A > C was also detected. Conclusion: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.

scholarly journals A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

2016 ◽  
Vol 8 (2) ◽  
pp. 241-245 ◽  
Author(s):  
Chutintorn Sriphrapradang ◽  
Yotsapon Thewjitcharoen ◽  
Suwannee Chanprasertyothin ◽  
Soontaree Nakasatien ◽  
Thep Himathongkam ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Thyroid Peroxidase ◽  
Thai Patient ◽  
Peroxidase Gene

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

1999 ◽  
Vol 51 (2) ◽  
pp. 165-172 ◽  
Author(s):  
Cecilia L. S. Santos ◽  
Hennie Bikker ◽  
Katia G. M. Rego ◽  
Antonio C. Nascimento ◽  
Marcos Tambascia ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Iodide Organification Defect ◽  
Organification Defect ◽  
Hypothyroid Patients
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