Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
J Pediatr Endocrinol Metab
; 23(4): 407-14, 2010 Apr.
Article
en En
| MEDLINE
| ID: mdl-20583548
ABSTRACT
Growth Hormone (GH) is a 22 kDa protein that has effects on growth and glucose and fat metabolisms. These effects are initiated by binding of growth hormone (GH) to growth hormone receptors (GHR) expressed in target cells. Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin like growth factor-1 (IGF-1). We analyzed the GHR gene for genetic defect in seven patients identified as Laron type dwarfism. We identified two missense mutations (S40L and W104R), and four polymorphisms (S473S, L526I, G168G and exon 3 deletion). We are reporting a mutation (W104R) at exon 5 of GHR gene that is not previously reported, and it is a novel mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de Somatotropina
/
Síndrome de Laron
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Turquía