Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taíse Lima Oliveira; Carré, Aurore; Chevrier, L.; Szinnai, Gabor; Tron, Elodie; Léger, Juliane; Cabrol, Sylvie; Queinnec, C; Roux, Nicolas de; Castanet, Mireille; Polak, Michel; Ramos, Helton Estrela

doi:10.1515/jpem-2014-0194

Cited by 4 publications

(2 citation statements)

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“…21 Pathogenesis may be more complicated even contrary to the in silico analysis. 44 A various prevalence of TSHR variants was reported among the different populations. The prevalence of TSHR variants was 11.2% in our cohort, which was higher than that in other Chinese population studies.…”

Section: Dovepressmentioning

confidence: 99%

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients

Xue

Yang

et al. 2021

IJGM

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Purpose To screen variants of the thyroid stimulating hormone receptor ( TSHR ) gene among congenital hypothyroidism (CH) patients. Patients and Methods We conducted a genetic screening of the TSHR gene in a cohort of 125 Chinese CH patients. Variants were detected by customized targeted next-generation sequencing. Results A total of 11 TSHR missense heterozygous variants were identified in 14 CH patients. Six variants were in the transmembrane domains, four variants were in the leucine-rich repeats and one variant was located in the hinge region of the TSHR protein. p.F525S was the most prevalent variant with an allele frequency of 0.016, followed by p.R450H with an allele frequency of 0.012. The allele frequency of most variants was higher in our cohort than those of other populations. Conclusion The prevalence of TSHR variants was 11.2%. Variant p.F525S was the most prevalent variant with an allele frequency of 0.016. The prevalence of TSHR variants was different from other populations.

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Section: Dovepressmentioning

confidence: 99%

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients

Xue

Yang

et al. 2021

IJGM

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“…Two novel heterozygous mutations in the PAX8 gene were discovered and functional analysis is under way to elucidate the mechanism leading to organ failure (6). Functional characterisation of a novel gene variant, p.S304R, in the hinge region of the TSH receptor that had been discovered in a child with congenital hypothyroidism was performed by Cerqueira et al Surprisingly, this novel TSHR gene variant neither led to altered TSH binding to the mutated receptor nor to impaired cAMP signalling (7). This finding impressively shows that gene variants that are being discovered in patients with disorders still have to be tested as to their functional relevance.…”

Section: Hypothyroidismmentioning

confidence: 99%

Thyroid disorders revisited

Kieß

Penke

Gesing

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Resistance to thyrotropin

Grasberger

Refetoff

2017

Best Practice & Research Clinical Endocrinology & Metab

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Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth. These include inactivating mutations in the genes encoding the TSH receptor and the PAX8 transcription factor. A common third cause has been genetically mapped to a locus on chromosome 15, but the underlying pathophysiology has not yet been elucidated. This review provides a succinct overview of currently defined causes of nonsyndromic RTSH, their differential diagnoses (autoimmune; partial iodine organification defects; syndromic forms of RTSH) and implications for the clinical approach to patients with RTSH.

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Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cited by 4 publications

References 45 publications

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients

Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients

Thyroid disorders revisited

Resistance to thyrotropin

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