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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


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Volume 31, Issue 6

Issues

Five novel ALMS1 gene mutations in six patients with Alström syndrome

Suna Kılınç
  • Department of Pediatric Endocrinology, Göztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Didem Yücel-Yılmaz
  • Hacettepe University, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Aylin Ardagil
  • Department of Ophthalmology, Göztepe Education and Research Hospital, Ophthalmology Clinics, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Süheyla Apaydın
  • Department of Nephrology, Nephrologist, Bakirkoy Sadi Konuk Education and Research Hospital, Nephrology Clinics, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Diana Valverde
  • Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Pontevedra, Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Rıza Köksal Özgül
  • Hacettepe University, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey
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  • De Gruyter OnlineGoogle Scholar
/ Ayla Güven
  • Corresponding author
  • Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Dr. Burhanettin Üstünel sokak, 34668, Üsküdar, Istanbul, Turkey, Phone: +905322380300
  • Pediatric Endocrinologist, Göztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey
  • Amasya University Medical Faculty, Department of Pediatrics, Amasya, Turkey
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2018-05-01 | DOI: https://doi.org/10.1515/jpem-2017-0418

Abstract

Background:

Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.

Methods:

We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition.

Results:

Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously.

Conclusions:

Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.

Keywords: ALMS1 gene; Alström syndrome; cirrhosis; cone-rod dystrophy; gallstones; obesity; type 2 diabetes mellitus

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About the article

Corresponding author: Prof. Dr. Ayla Güven, Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Dr. Burhanettin Üstünel sokak, 34668, Üsküdar, Istanbul, Turkey, Phone: +905322380300; Pediatric Endocrinologist, Göztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey; and Amasya University Medical Faculty, Department of Pediatrics, Amasya, Turkey


Received: 2017-10-15

Accepted: 2018-03-12

Published Online: 2018-05-01

Published in Print: 2018-06-27


Author contributions: Concept: Suna Kılınç, Ayla Güven. Design: Suna Kılınç, Aya Güven, Rıza Köksal Özgül. Data collection and processing: Suna Kılınç, Ayla Güven, Aylin Ardagil, Süheyla Apaydın. Analyses and interpretations: Didem Yücel-Yılmaz, Rıza Köksal Özgül, Diana Valverde. Literature search: Suna Kılınç, Ayla Güven. Writing: Suna Kılınç, Ayla Güven, Rıza Köksal Özgül. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 31, Issue 6, Pages 681–687, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2017-0418.

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