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Licensed Unlicensed Requires Authentication Published by De Gruyter February 24, 2016

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

  • Caley Laxer , Sofia A. Rahman , Maha Sherif , Sophia Tahir , Atilla Cayir , Huseyin Demirbilek and Khalid Hussain EMAIL logo


Background: Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (ALMS1) gene located at 2p13.1.

Methods: In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.

Results: Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of ALMS1 gene. The consanguineous parents were sequenced and both were heterozygous for the same mutation.

Conclusions: This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in ALMS1 gene responsible for the complex phenotype of AS in these patients.

Corresponding author: Professor Khalid Hussain, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS, 30 Guilford Street, WC1N 1EH, London, UK, E-mail:


We are indebted to the patients and their families for participating in our studies.

Author contributions: 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 organisation(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.


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Received: 2015-6-19
Accepted: 2015-12-30
Published Online: 2016-2-24
Published in Print: 2016-5-1

©2016 by De Gruyter

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