Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism.
Endocr Res
; 41(3): 180-4, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-26864598
ABSTRACT
Inactivating mutations of the thyrotropin receptor (TSHR) gene are responsible for non-goitrogenic congenital hypothyroidism (CHNG). This study aimed to investigate mutations in the TSHR gene in 20 children with CHNG. Genomic DNA was extracted from peripheral blood leukocytes and was used for mutation screening by direct sequencing. Analyses of the TSHR gene revealed two novel variants in a 2-year-old boy with thyroid hypoplasia a missense mutation c.1582C>T (p.R528C) and a splice-site deletion c.392+4del4. Bioinformatics analysis demonstrated that both variants are capable of causing disease. Family members of the patient with two mutations and normal controls were also recruited and investigated. Germline mutations from the proband's family were consistent with an autosomal recessive inheritance pattern. These findings indicate that two novel inactivating mutations (p.R528C and c.392+4del4) in the TSHR gene can cause CHNG.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Receptores da Tireotropina
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Hipotireoidismo Congênito
Tipo de estudo:
Risk_factors_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article