Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Marshall JD, Hinman EG, Collin GB et al: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutation 2007; 28: 1114–1123.
Marshall JD, Maffei P, Collin GB, Naggert JK : Alström syndrome: genetics and clinical overview. Curr Genomics 2011; 12: 225–235.
Pereiro I, Hoskins BE, Marshall JD et al: Arrayed Primer Extension (APEX) technology simplifies mutation detection in Bardet Biedl and Alström Syndrome. Eur J Hum Genet 2011; 19: 485–488.
Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D : Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis 2012; 18: 1794–1802.
Redin C, Le Gras S, Mhamdi O et al: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes. J Med Genet 2012; 49: 502–512.
LOVD Open Access Online Mutation Database www.euro-wabb.org.
Joy T, Cao H, Black G et al: Alström syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2002; 1: 49.
Hearn T, Renforth GL, Spalluto C et al: Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 2002; 31: 79–83.
Taşkesen M, Collin GB, Evsikov AV, Güzel A, Ozgül RK, Marshall JD et al: Novel Alu retrotransposon insertion leading to Alström syndrome. Hum Genet 2012; 13: 407–413.
Collin GB, Marshall JD, Ikeda A et al: Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 2002; 31: 74–78.
Aldahmesh MA, Abu-Safieh L, Khan AO et al: Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A 2009; 149A: 662–665.
Marshall JD, Beck S, Maffei P, Naggert JK : Alström syndrome. Eur J Hum Genet 2007; 15: 1193–1202.
Acknowledgements
This work was supported by EuroGentest, an EU-FP6-supported NoE, contract number 512148 (EuroGentest Unit 3: ‘Clinical genetics, community genetics and public health’, Workpackage 3.2). JDM and JKN were supported by a National Institutes of Health grant HD036878. PM and TGB were funded by Executive Agency for Health and Consumer (EAHC), EURO-WABB, agreement number 2010 12 05. TGB and RP were funded by the UK National Specialist Clinical Team, NSCT.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Rights and permissions
About this article
Cite this article
Marshall, J., Maffei, P., Beck, S. et al. Clinical utility gene card for: Alström Syndrome - update 2013. Eur J Hum Genet 21, 3–4 (2013). https://doi.org/10.1038/ejhg.2013.61
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2013.61
This article is cited by
-
CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease
Journal of Human Genetics (2019)
-
Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options
Current Diabetes Reports (2018)
-
Hereditäre Schwerhörigkeit
Humanmedizin kompakt (2015)
-
Hereditäre Schwerhörigkeit
HNO (2014)