Low Frequency of MKRN3 and DLK1 Variants in Chinese Children with Central Precocious Puberty.

ABSTRACT:

Background

Central precocious puberty (CPP) is defined by gonadotropin-dependent development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. MKRN3 and DLK1 are two genes, disease-causing variants of which have recently been discovered to cause idiopathic CPP.

Methods

We screened 173 Chinese patients (9 males and 164 females; 9 familial and 164 sporadic) with ICPP and 43 patients (9 males and 34 females; 3 familial and 40 sporadic) with early puberty for variants in MKRN3. We also screened 19 patients with ICPP and early puberty for variants of DLK1 (17 males and 2 females; 5 familial and 14 sporadic).

Results

We identified four novel missense variants of MKRN3, c.1138G > A (p.Glu380Lys), c.

SUBMITTER: Chen T 

PROVIDER: S-EPMC6794979 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature