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
Copyright policy )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
AbstractThyroid dysgenesis may be associated with loss-of-function mutations in the thyrotropin receptor (The aim of this study was to characterize a novelThis cross-sectional cohort study involved 118 patients with CH and their family members, including 45 with familial and 73 with sporadic diseases. The thyroid gland was normal in 23 patients, 25 patients had hypoplasia, 25 hemithyroid agenesis, 21 had athyreosis, and 21 had ectopy. Genomic DNA was extracted, and 10 exons of theWe identified one previously unknown missense variation in the hinge region (HinR) of theWe report the ocurrence of a novel nonsynonymous substitution in the HinR of the large N-terminal extracellular domain of the
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- Hôpital Armand Trousseau France
Adult, Male, Adolescent, Infant, Receptors, Thyrotropin, Prognosis, Cohort Studies, Young Adult, Cross-Sectional Studies, Phenotype, Child, Preschool, Mutation, Thyroid Dysgenesis, Congenital Hypothyroidism, Humans, Female, Child, Follow-Up Studies
Adult, Male, Adolescent, Infant, Receptors, Thyrotropin, Prognosis, Cohort Studies, Young Adult, Cross-Sectional Studies, Phenotype, Child, Preschool, Mutation, Thyroid Dysgenesis, Congenital Hypothyroidism, Humans, Female, Child, Follow-Up Studies
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