Investigation of MKRN3 mutation in patients with familial central precocious puberty

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AYCAN Z., Savaş-Erdeve Ş., Çetinkaya S., Kurnaz E., Keskin M., Şahin N. M., ...Daha Fazla

JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.10, sa.3, ss.223-229, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.5506
  • Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.223-229
  • Anahtar Kelimeler: MKRN3 mutation, familial central precocious puberty, genetic analysis, IMPRINTED GENE MKRN3, GIRLS, CHILDREN, PATTERN
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2018 by Turkish Pediatric Endocrinology and Diabetes Society.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.