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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
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2191-0251
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Volume 25, Issue 9-10 (Oct 2012)

Issues

Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele

Emin Karaca / Sema Kalkan
  • Division of Metabolic Diseases, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Huseyin Onay / Ayca Aykut / Mahmut Coker
  • Division of Metabolic Diseases, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ferda Ozkinay
  • Division of Genetics, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2012-09-04 | DOI: https://doi.org/10.1515/jpem-2012-0155

Abstract

Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme β-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9% of the GD alleles. The N370S mutation had the highest prevalence (50%) followed by the L444P (35.5%) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.

Keywords: Gaucher disease; β-glucocerebrosidase gene; Turkish population

About the article

Corresponding author: Emin Karaca, MD, Department of Medical Genetics, Ege University Faculty of Medicine, 35100 Bornova-Izmir, Turkey, Phone: +00 90 532 257 92 85, Fax: +00 90 232 390 39 71


Received: 2012-05-14

Accepted: 2012-08-04

Published Online: 2012-09-04

Published in Print: 2012-10-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0155.

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©2012 by Walter de Gruyter Berlin Boston. Copyright Clearance Center

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