New GAA mutations in japanese patients with GSDII (pompe disease)

Pipo, Judy R; Feng, Jian-Hua; Yamamoto, Toshiyuki; Ohsaki, Yuki; Nanba, Eiji; Tsujino, Seiichi; Sakuragawa, Norio; Martiniuk, Frank; Ninomiya, Haruaki; Oka, Akira; Ohno, Kousaku

doi:10.1016/S0887-8994(03)00267-4

« Previous Next »Pediatric Neurology
Volume 29, Issue 4 , Pages 284-287, October 2003

New GAA mutations in japanese patients with GSDII (pompe disease)

Judy R Pipo, MD
- Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
- Communications should be addressed to:Dr. Yamamoto; Division of Medical Genetics; Kanagawa Children’s Medical Center; 2-138-4 Mutsukawa; Minami-ku, Yokohama 232-8555, Japan.
Jian-Hua Feng, MD
- Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
- Department of Child Neurology, Children Hospital, Zhejiang University, Hangzhou, 310003, PR, China
Toshiyuki Yamamoto, MD, PhD
- Gene Research Center, Tottori University, Yonago, Japan
- Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
Yuki Ohsaki
- Department of Neurobiology, School of Life Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
Eiji Nanba, MD, PhD
- Gene Research Center, Tottori University, Yonago, Japan
Seiichi Tsujino, MD, PhD
- Department of Inherited Metabolic Diseases, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
Norio Sakuragawa, MD, PhD
- Department of Inherited Metabolic Diseases, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
Frank Martiniuk, PhD
- Division of Pulmonary and Critical Care Medicine, Department of Medicine, New York University School of Medicine, New York, New York, USA.
Haruaki Ninomiya, MD, PhD
- Department of Neurobiology, School of Life Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
Akira Oka, MD, PhD
- Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
Kousaku Ohno, MD, PhD
- Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan

Received 10 December 2002; accepted 29 April 2003.

Abstract

Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid α-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. The GAA gene, responsible for this disease, has been mapped to chromosome 17q25.2-25.3. To date, more than 70 disease-causing mutations have been identified. In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H). The pathogenicity of these new mutations was verified by the loss of function of the mutant enzymes expressed in COS cells..

Keywords: glycogen storage disease type II, acid α-glucosidase, GAA gene, Pompe disease, mutation, Japanese