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 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.

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 Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lu Cao ◽  
Ruixue Zhang ◽  
Liang Yong ◽  
Shirui Chen ◽  
Hui Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sequence Alignment ◽  
Multiple Sequence Alignment ◽  
Molecular Genetic ◽  
Family Members ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Mendelian Inheritance ◽  
Chinese Family ◽  
Multiple Sequence

Abstract Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations. Results A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Variation, Online Mendelian Inheritance in Man, ClinVar, or 1000 Genomes Project databases. All in silico predictors suggested that the observed substitution mutation was deleterious. Furthermore, multiple sequence alignment of SASH1 revealed that the p.S510N mutation was highly conserved during evolution. In addition, we reviewed the previously reported DUH-related gene mutations in SASH1 and ABCB6. Conclusion Although the affected family members had identical mutations, differences in the clinical manifestations of these family members were observed, which reveals the complexity of the phenotype-influencing factors in DUH. Our findings reveal the mutation responsible for DUH in this family and broaden the mutational spectrum of the SASH1 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.

New Heterozygous Mutations in Thyroglobulin Gene in Patients with Congenital Hypothyroidism

2011 ◽  
pp. P3-610-P3-610
Author(s):  
Ester Saraiva Brust ◽  
Cristine Barboza Beltrao ◽  
Tomoco Watanabe ◽  
Maria Cristina Chammas ◽  
Suemi Marui
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroglobulin Gene

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

scholarly journals Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

2000 ◽  
Vol 85 (10) ◽  
pp. 3708-3712 ◽  
Author(s):  
Bert Bakker ◽  
Hennie Bikker ◽  
Thomas Vulsma ◽  
Janine S. E. de Randamie ◽  
Brenda M. Wiedijk ◽  
...  
Keyword(s):  
The Netherlands ◽  
Congenital Hypothyroidism ◽  
Gene Mutations
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