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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


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Volume 29, Issue 1

Issues

The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents

Emil Polák
  • Corresponding author
  • Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Bratislava, Slovakia
  • Institute of Molecular Physiology and Genetics, Slovak Academy of Science, Bratislava, Slovakia
  • Email
  • Other articles by this author:
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/ Eva Vitáriušová
  • Faculty of Medicine, 2nd Department of Paediatrics, Comenius University, University Children’s Hospital, Bratislava, Slovakia
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/ Peter Celec
  • Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Bratislava, Slovakia
  • Institute of Molecular Biomedicine, Comenius University, Bratislava, Slovakia
  • Center for Molecular Medicine, Slovak Academy of Science, Bratislava, Slovakia
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/ Zuzana Pribilincová
  • Faculty of Medicine, 2nd Department of Paediatrics, Comenius University, University Children’s Hospital, Bratislava, Slovakia
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/ Ľudmila Košťálová
  • Faculty of Medicine, 2nd Department of Paediatrics, Comenius University, University Children’s Hospital, Bratislava, Slovakia
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/ Anna Hlavatá
  • Faculty of Medicine, 2nd Department of Paediatrics, Comenius University, University Children’s Hospital, Bratislava, Slovakia
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/ László Kovács
  • Faculty of Medicine, 2nd Department of Paediatrics, Comenius University, University Children’s Hospital, Bratislava, Slovakia
  • Other articles by this author:
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/ Ľudevít Kádaši
  • Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Bratislava, Slovakia
  • Center for Molecular Medicine, Slovak Academy of Science, Bratislava, Slovakia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2015-08-05 | DOI: https://doi.org/10.1515/jpem-2015-0015

Abstract

Melanocortin-4 receptor (MC4R) deficiency is the most frequent monogenic form of obesity. The contribution of MC4R mutations to the Slovak population has not been investigated as yet. We screened the coding sequence of the MC4R gene in a cohort of 210 Slovak obese children and adolescents. We identified four different mutations in four patients, giving a mutation detection rate of 0.95%. Of these, three were missense mutations previously identified and characterized by other research groups (p.R7C, p.S127L and p. R305W, respectively). One was a novel nonsense mutation p.W174* detected in a severely obese 7-year-old boy. This mutation was further analyzed in family segregation analysis and exhibited variable penetrance. Two known amino acid polymorphisms (p.V103I and p.I251L) were also identified in seven subjects of our cohort group. We also performed multifactorial statistical analysis to determine the influence of genotypes on standard biochemical blood markers. No significant influence was observed in carriers of DNA variants on tested parameters. We conclude that rare heterozygous MC4R mutations contribute to the onset of obesity only in a few cases in the Slovak population.

Keywords: MC4R; melanocortin-4 receptor; mutation analysis; obesity; polymorphisms

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About the article

Corresponding author: Emil Polák, Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Mlynska dolina B2-210, 842 15 Bratislava, Slovak Republic, Phone: +421260296653, Fax: +421260296508, E-mail: ; and Institute of Molecular Physiology and Genetics, Slovak Academy of Science, Bratislava, Slovakia

aEmil Polák and Eva Vitáriušová: These authors contributed to this work equally.


Received: 2015-01-12

Accepted: 2015-04-24

Published Online: 2015-08-05

Published in Print: 2016-01-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 1, Pages 55–61, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0015.

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