Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2018, Vol 10, Issue 3
Abstract
Objective: There have been recent advances in the understanding of the etiology of idiopathic central precocious puberty (iCPP) including new genetic associations. The aim of this clinical study was to determine the frequency of MKRN3 mutation in cases of familial iCPP. Methods: Potential sequence variations in the maternally imprinted MKRN3 gene were evaluated in 19 participants from 10 families using next-generation sequencing analysis. Results: MKRN3 variation was found in only one of the 19 (5.3%) subjects. The male patient, who had a medical history of precocious puberty, had a heterozygous mutation, NM_005664.3:c.630_650delins GCTGGGC (p.P211Lfs*16). The father of this patient also had a history of precocious puberty and had the same mutation. p.P211Lfs*16 is a novel variant and it was identified as probably pathogenic by in silico analysis, consistent with the clinical findings. Conclusion: Given that MKRN3 mutation was detected in only one patient, with a paternal history of precocious puberty, this reinforces the importance of accurate family history taking. The detected incidence of MKRN3 variants in our case series was much lower than reported elsewhere which suggests a need for further studies in Turkish iCPP patients.
Authors and Affiliations
Zehra Aycan, Şenay Savaş-Erdeve, Semra Çetinkaya, Erdal Kurnaz, Melikşah Keskin, Nursel Muratoğlu Şahin, Elvan Bayramoğlu, Gülay Ceylaner
Keywords
Related Articles
- EP ID EP364457
- DOI 10.4274/jcrpe.5506
- Views 142
- Downloads 0
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been refe...
Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
Objective: The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correla...
Autoimmune Limbic Encephalitis Associated with Type 1 Diabetes Mellitus
.
Comparison of Updated Weight and Height Percentiles with Previous References in 6-17-Year-Old Children in Kayseri, Turkey
Objective: To compare updated weight and height percentiles of 6-17-year-old children from all socio-economic levels in Kayseri with previous local references and other national/international data. Methods: The second s...
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings
Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and...