Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
Arq Bras Endocrinol Metabol
; 56(9): 646-52, 2012 Dec.
Article
em En
| MEDLINE
| ID: mdl-23329188
ABSTRACT
OBJECTIVE:
To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders. SUBJECTS ANDMETHODS:
Two hundred and thirty seven patients were studied 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH), and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced.RESULTS:
We identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C>T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH.CONCLUSION:
Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Puberdade Tardia
/
Puberdade Precoce
/
Neurocinina B
/
Receptores da Neurocinina-3
/
Transtornos do Crescimento
/
Hipogonadismo
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article