Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

2016 ◽  
Vol 423 ◽  
pp. 60-66 ◽  
Author(s):  
Xuyun Hu ◽  
Rongyu Chen ◽  
Chunyun Fu ◽  
Xin Fan ◽  
Jin Wang ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Thyroglobulin Gene

scholarly journals Thyroglobulin Gene Mutations in Congenital Hypothyroidism

2011 ◽  
Vol 75 (5) ◽  
pp. 311-321 ◽  
Author(s):  
Héctor M. Targovnik ◽  
Cintia E. Citterio ◽  
Carina M. Rivolta
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroglobulin Gene

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine ◽  
2013 ◽  
Vol 45 (2) ◽  
pp. 206-212 ◽  
Author(s):  
Hakan Cangul ◽  
Kristien Boelaert ◽  
Murat Dogan ◽  
Yaman Saglam ◽  
Michaela Kendall ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroglobulin Gene

scholarly journals Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Toshio Kahara ◽  
Noboru Igarashi ◽  
Akira Hishinuma ◽  
Yuko Nakanishi ◽  
Akio Uchiyama ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Elevated Serum ◽  
Gene Mutations ◽  
Thyroid Scintigraphy ◽  
Serum Thyroglobulin ◽  
Hyperplastic Nodule ◽  
Thyroglobulin Gene ◽  
Cold Nodule

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.

scholarly journals Phenotypic Variation Among Four Family Members with Congenital Hypothyroidism Caused by Two Distinct Thyroglobulin Gene Mutations

Thyroid ◽  
2008 ◽  
Vol 18 (7) ◽  
pp. 783-786 ◽  
Author(s):  
Viviane Pardo ◽  
Ileana G.S. Rubio ◽  
Meyer Knobel ◽  
Manoel H. Aguiar-Oliveira ◽  
Marcos M. Santos ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Phenotypic Variation ◽  
Family Members ◽  
Gene Mutations ◽  
Thyroglobulin Gene

scholarly journals Rare and novel GNAS gene mutations in Chinese patients with thyroid cancer

2021 ◽  
Author(s):  
Zhuo Wang ◽  
Changwen Jing ◽  
Haixia Cao ◽  
Jianzhong Wu ◽  
Rong Ma
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Gnas Gene

Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Erik Artur Cortinhas Alves ◽  
Raissa Coelho Andrade ◽  
Carlos Eduardo de Melo Amaral ◽  
Milena Coelho Fernandes Caldato ◽  
Adriana Maria Rocha Bastos ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Peripheral Blood ◽  
Genomic Dna ◽  
Gene Mutations ◽  
Molecular Heterogeneity ◽  
Coding Region ◽  
Blood Samples ◽  
Live Births ◽  
Tshr Gene ◽  
Inactivating Mutations

AbstractPrimary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.

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.

Novel Recurrent Altered Genes in Chinese Patients With Anaplastic Thyroid Cancer

2021 ◽  
Author(s):  
Lingyun Zhang ◽  
Zhixiang Ren ◽  
Zhengzheng Su ◽  
Yang Liu ◽  
Tian Yang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Copy Number ◽  
Treatment Strategies ◽  
Gene Mutations ◽  
Anaplastic Thyroid Cancer ◽  
Chinese Patients ◽  
Driver Gene ◽  
Phosphatidylinositol 3 Kinase ◽  
Entire Cohort ◽  
Whole Exome

Abstract Background Anaplastic thyroid cancer (ATC) is a rare but lethal malignancy, and few systematic investigations on genomic profiles of ATC have been performed in Chinese patients. Methods Fifty-four ATC patients in West China Hospital between 2010 to 2020 were retrospectively analyzed, while 29 patients with available samples were sequenced by whole-exome sequencing (WES). The associations between genomic alterations and clinical characteristics were statistically evaluated. Results The median overall survival was 3.0 months in the entire cohort, which was impacted by multiple clinical features, including age, tumor size, and different treatment strategies. In the WES cohort, totally 797 nonsilent mutations were detected; the most frequently altered genes were TP53 (48%), BRAF (24%), PIK3CA (24%), and TERT promoter (21%). Although these mutations have been well-reported in previous studies, ethnic specificity was exhibited in terms of mutation frequency. Moreover, several novel significantly mutated genes were identified including RBM15 (17%), NOTCH2NL (14%), CTNNA3 (10%), and KATNAL2 (10%). WES-based copy number alteration analysis also revealed a high frequent gain of NOTCH2NL (41%), which induced its increased expression. Gene mutations and copy number alterations were enriched in phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin (mTOR), NOTCH, and WNT pathways. Conclusions This study reveals shared and ethnicity-specific genomic profiles of ATC in Chinese patients and suggests NOTCH2NL may act as a novel candidate driver gene for ATC tumorigenesis.

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