Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism

2020 ◽  
Vol 93 (4) ◽  
pp. 499-507 ◽  
Author(s):  
Defa Zhao ◽  
Yang Li ◽  
Zhongyan Shan ◽  
Weiping Teng ◽  
Jing Li ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene

Thyroid Peroxidase Gene Mutations Causing Congenital Hypothyroidism in Three Turkish Families

2009 ◽  
Vol 22 (11) ◽  
Author(s):  
M.N. Ozbek ◽  
A.B. Uslu ◽  
N. Onenli-Mungan ◽  
B. Yuksel ◽  
J. Pohlenz ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene

scholarly journals Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Mahin Hashemipour ◽  
Fahimeh Soheilipour ◽  
Sakineh Karimizare ◽  
Hossein Khanahmad ◽  
Morteza Karimipour ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Cross Sectional Study ◽  
Thyroid Peroxidase ◽  
Nucleotide Polymorphisms ◽  
Salting Out ◽  
Cross Sectional ◽  
Peroxidase Gene ◽  
Thyroid Dyshormonogenesis ◽  
Unknown Gene

Background. Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis in patients with congenital hypothyroidism (CH). In this study, the prevalence of TPO gene mutations in patients with thyroid dyshormonogenesis in Isfahan was investigated.Methods. In this cross-sectional study, genomic DNA of 41 patients with permanent CH due to thyroid dyshormonogenesis was extracted using the salting out method. The 17 exonic regions of the TPO gene were amplified. SSCP technique was performed for scanning of the exonic regions of the TPO gene, except exon 8. DNA sequencing was performed for those with different migration patterns in SSCP by chain termination method. Exon 8 was sequenced directly in all patients. In 4 patients, all fragments were also sequenced.Results. One missense mutationc.2669G>A(NM_000547.5) at exon 15 (14th coding exon) in one patient in homozygous form and seven different single nucleotide polymorphisms (SNPs) in exons 1, 7, 8, 11, and 15 of TPO gene.Conclusion. The TPO gene mutations among CH patients with dyshormonogenesis in Isfahan were less frequent in comparison with other similar studies. It may be due to the presence of other unknown gene mutations which could not be detected by SSCP and sequencing methods.

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.

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism

2009 ◽  
Vol 104 (S 04) ◽  
pp. 121-123 ◽  
Author(s):  
A. Grüters ◽  
B. Köhler ◽  
A. Wolf ◽  
A. Söling ◽  
L. de Vijlder ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Human Thyroid Peroxidase
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