A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.
J Pediatr Endocrinol Metab
; 27(11-12): 1101-5, 2014 Nov.
Article
en En
| MEDLINE
| ID: mdl-24945425
ABSTRACT
Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. In this study, we aim to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family. We utilized genetic linkage analysis and direct sequencing to achieve our aim. Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case. Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here, they are reported for the first time with R609X mutation in a familial case.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de Tirotropina
/
Codón sin Sentido
/
Hipotiroidismo Congénito
/
Cardiopatías Congénitas
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article