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Association study of DLK1 in girls with idiopathic central precocious puberty
Hae Sang Lee1, Kyung Hee Kim1, Jin Soon Hwang2
1Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea.
Insights
Genetic analysis of the delta-like 1 homolog (DLK1) gene in girls with idiopathic central precocious puberty (CPP) revealed no significant differences in allele frequencies. DLK1 mutations appear to be a rare cause of CPP.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Mutations in the delta-like 1 homolog (DLK1) gene have been implicated in idiopathic central precocious puberty (CPP).
- Further investigation is needed to understand the role of DLK1 in CPP pathogenesis.
Purpose of the Study:
- To investigate DLK1 mutations and polymorphisms in girls diagnosed with idiopathic CPP.
- To compare the frequency of DLK1 sequence variations between CPP patients and healthy controls.
Main Methods:
- Sequencing of DLK1 coding regions in 100 girls with idiopathic CPP and healthy controls.
- Statistical analysis of allele frequencies to identify significant associations with CPP.
Main Results:
- Five polymorphisms were identified in the DLK1 gene.
- No significant differences in allele frequencies were observed between CPP patients and controls.
- One potentially significant variant, c.549C>T (p.G183G), was found in a single CPP patient and suggested a splicing defect via in silico analysis.
Conclusions:
- DLK1 gene sequencing identified only one potentially significant variant.
- DLK1 mutations are a rare cause of idiopathic central precocious puberty in girls.
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.
