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Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

Department of Child Development, Kumamoto University School of Medicine, kimusige{at}kaiju.medic.kumamoto-u.ac.jp

Makoto Ikezawa, MD, PhD

Department of Child Development, Kumamoto University School of Medicine

Shiro Ozasa, MD

Department of Child Development, Kumamoto University School of Medicine

Kaori Ito, MD, PhD

Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Pharmaceutical Sciences, Sojo University

Hiroe Ueno, MD

Department of Child Development, Kumamoto University School of Medicine

Kowashi Yoshioka, BA

Department of Child Development, Kumamoto University School of Medicine

Saki Ijiri, PharB

Department of Clinical Chemistry and Informatics, Graduate School of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan

Keiko Nomura, MD

Department of Child Development, Kumamoto University School of Medicine

Kyoko Nakamura, MD

Department of Child Development, Kumamoto University School of Medicine

Makoto Matuskura, MD, PhD

Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Pharmaceutical Sciences, Sojo University

Teruhisa Miike, MD, PhD

Department of Child Development, Kumamoto University School of Medicine

One cause of X-linked dilated cardiomyopathies is mutation of the dystrophin gene. We report the case of a young boy who suffered from dilated cardiomyopathy caused only by dystrophin-deficient cardiac muscle, but who did not present with any clinical signs of skeletal myopathy. Sequence analysis of the patient's dystrophin gene revealed the presence of a novel single point mutation at the first exon—intron boundary, inactivating the 5' splice site consensus sequence of the first intron. The lack of muscle weakness observed clinically can be explained by expression of the brain and Purkinje dystrophin isoforms in skeletal muscle.

Key Words: dilated cardiomyopathy • dystrophin gene • novel mutation

Journal of Child Neurology, Vol. 22, No. 7, 901-906 (2007)
DOI: 10.1177/0883073807304705


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