Neuropediatrics 2003; 34(5): 270-273
DOI: 10.1055/s-2003-43262
Short Communication

Georg Thieme Verlag Stuttgart · New York

Identification of a Novel LAMP2 Mutation Responsible for X-Chromosomal Dominant Danon Disease

J. Horváth 1 , U.-P. Ketelsen 1 , A. Geibel-Zehender 2 , N. Boehm 3 , H. Olbrich 1 , R. Korinthenberg 1 , H. Omran 1
  • 1Department of Pediatric Neurology and Muscle Disease, University Children's Hospital Freiburg, Freiburg, Germany
  • 2Department of Cardiology, University Hospital Freiburg, Freiburg, Germany
  • 3Department of Pathology, University Hospital Freiburg, Freiburg, Germany
Further Information

Publication History

Received: November 3, 2002

Accepted after Revision: June 26, 2003

Publication Date:
04 November 2003 (online)

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.

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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