Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

ABSTRACT:

Context

Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP).

Objective

To describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the characteristics of different types of genetic defects.

Methods

Multiethnic cohort of 716 patients with familial or idiopathic CPP screened for MKRN3 mutations using Sanger sequencing. A group of 156 Brazilian girls with idiopathic CPP (ICPP) was used as control group.

Results

Seventy-one patients (45 girls and 26 boys from 36 families) had 18 different loss-of-function MKRN3 mutations. Eight mutations were classified as severe (70% of patients). Among the 71 patients, first

SUBMITTER: Seraphim CE 

PROVIDER: S-EPMC7993586 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature