Association study of DLK1 in girls with idiopathic central precocious puberty

Hae Sang Lee; Kyung Hee Kim; Jin Soon Hwang

doi:10.1515/jpem-2020-0014

Article

Association study of DLK1 in girls with idiopathic central precocious puberty

Hae Sang Lee , Kyung Hee Kim and Jin Soon Hwang

Published/Copyright: July 5, 2020

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 33 Issue 8

Abstract

Objective

Mutations in the delta-like 1 homolog (DLK1) gene have recently been reported in patients with idiopathic central precocious puberty (CPP). We aimed to investigate DLK1 mutations or polymorphisms in girls with CPP.

Methods

A total of 100 girls diagnosed with idiopathic CPP were enrolled. DLK1 coding regions were sequenced in girls with idiopathic CPP and healthy girls (controls). The relationship between identified sequence variations and CPP was evaluated via comparison of allele frequencies between patients with CPP and normal healthy controls.

Results

We identified five polymorphisms in DLK1. There was no significant difference with regard to allele frequency between patients with CPP and controls. Polymorphism c.549C>T (p.G183G) in DLK1 gene was identified in only one patient with CPP. In silico analysis with human splicing finder suggested that the variant (c.549C>T) leads to splicing defect.

Conclusions

The sequencing of DLK1 gene has uncovered only one potentially meaningful variant. However, our results demonstrate that DLK1 mutations are a relatively rare cause of idiopathic CPP.

Keywords: DLK1; genetic association study; precocious puberty

Corresponding author: Jin Soon Hwang, Department of Pediatrics, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon, Korea, 443-721, Phone: +82 31 219 5166, Fax: +82 31 219 5169, E-mail: pedhwang@ajou.ac.kr

Funding source: the National Research Foundation of Korea

Award Identifier / Grant number: NRF-2016R1C1B2015718

Funding source: the Korea Health Technology R&D project through the Korea Health Industry Development Institute

Award Identifier / Grant number: HI16C2061

Research funding: This study was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIP) and by a grant from the Korea Health Technology R&D project through the Korea Health Industry Development Institute (KHIDI) funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI16C2061).
Author contributions: HS Lee and JS Hwang designed the study. HS Lee collected the samples and clinical information. KH Kim and HS Lee performed the laboratory experiments and data analysis. HS Lee was responsible for the pipeline. HS Lee drafted the manuscript, and HS Lee and JS Hwang refined the final approved version of the paper. All authors have discussed the data and provided some advice. All authors read and approved the final manuscript.
Competing interests: None of the authors has any conflict of interest to disclose. We confirm that we have read the journal’s position on issues involved in ethical publication and confirm that this report is consistent with such guidelines.
Informed consent: Informed consent was obtained from all individuals included in this study.

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Received: 2020-01-12

Accepted: 2020-04-25

Published Online: 2020-07-05

Published in Print: 2020-08-27

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Articles in the same Issue

https://doi.org/10.1515/jpem-2020-0014

Keywords for this article

DLK1; genetic association study; precocious puberty