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DOI: 10.1055/s-2003-43262
Georg Thieme Verlag Stuttgart · New York
Identification of a Novel LAMP2 Mutation Responsible for X-Chromosomal Dominant Danon Disease
Publikationsverlauf
Received: November 3, 2002
Accepted after Revision: June 26, 2003
Publikationsdatum:
04. November 2003 (online)
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Abstract
Danon disease (DD) is a rare lysosomal glycogen storage disease with normal acid maltase activity, which is characterised clinically by cardiomyopathy and myopathy, and a variable degree of mental retardation. The causative gene, LAMP2, has been mapped to chromosome Xq24-q25. LAMP2 encodes a lysosome-associated membrane glycoprotein. We identified a novel LAMP2 mutation of the exon 8 splice acceptor site (IVS7-1G → A) in an affected male and female, which predicts abnormal splicing. Both affected individuals presented solely with hypertrophic cardiomyopathy. Muscle weakness and mental impairment were absent. Diagnosis of Danon disease was established by muscle biopsy, when the male index patient developed transient severe muscle weakness following heart transplantation. Typical biopsy findings were also found in a heart muscle specimen. Demonstration of the LAMP2 mutation in affected male and female siblings is compatible with X-linked dominant inheritance. Danon disease should be actively looked for in cardiomyopathy patients.
Key words
Danon disease - glycogen storage disease type IIb - LAMP2
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M. D. Heymut Omran
Department for Pediatric Neurology and Muscle Disorders
University Children's Hospital
Mathildenstraße 1
79106 Freiburg
Germany
eMail: omran@kikli.ukl.uni-freiburg.de