作者
Delanie B Macedo, Ana Paula Abreu, Ana Claudia S Reis, Luciana R Montenegro, Andrew Dauber, Daiane Beneduzzi, Priscilla Cukier, Leticia FG Silveira, Milena G Teles, Rona S Carroll, Gil Guerra Junior, Guilherme Guaragna Filho, Zoran Gucev, Ivo JP Arnhold, Margaret de Castro, Ayrton C Moreira, Carlos Eduardo Martinelli Jr, Joel N Hirschhorn, Berenice B Mendonca, Vinicius N Brito, Sonir R Antonini, Ursula B Kaiser, Ana Claudia Latronico
发表日期
2014/6/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
99
期号
6
页码范围
E1097-E1103
出版商
Oxford University Press
简介
Context
Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause of familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion.
Objectives
The objective of the study was to investigate potential MKRN3 sequence variations as well as copy number and methylation abnormalities of the 15q11 locus in patients with apparently sporadic CPP.
Setting and Participants
We studied 215 unrelated children (207 girls and eight boys) from three university medical centers with a diagnosis of CPP. All but two of these patients (213 cases) reported no family history of premature sexual development. First-degree relatives of patients with identified MKRN3 variants were included for genetic analysis …
学术搜索中的文章
DB Macedo, AP Abreu, ACS Reis, LR Montenegro… - The Journal of Clinical Endocrinology & Metabolism, 2014