Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 57, Issue 9, Pages 532-535Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2014.06.004
Keywords
Cardiomyopathy; Alstrom syndrome; ALMS1; Exome sequencing; Ciliopathy
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Funding
- Unrestricted Eddy Merckx Research Fund, FU Leuven [GOA/12/015]
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Background: Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically. Methods and results: Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype. Conclusions: Alstrom syndrome is characterized by a typically transient dilating cardiomyopathy in infancy, suggesting that mitogenic cardiomyopathy represents the extreme phenotype, resulting in demise before the other clinical symptoms become evident. This observation further illustrates the role of ALMS1 and cell cycle regulation. (C) 2014 Published by Elsevier Masson SAS.
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