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Neurology 1999;52:638
© 1999 American Academy of Neurology
Brief Communications

A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation

D.-H. Chen, MD, Y. Takeshima, MD, PhD, Yukitoshi Ishikawa, MD, PhD, Yuka Ishikawa, MD, R. Minami, MD, PhD and M. Matsuo, MD, PhD

From the Division of Genetics (Drs. Chen and Matsuo), International Center for Medical Research, and Department of Pediatrics (Dr. Takeshima), Kobe University School of Medicine, Chuo, Kobe; and Department of Pediatrics (Drs. Yukitoshi Ishikawa, Yuka Ishikawa, and Minami), National Sanatorium Yakumo Hospital, Yakumo, Hokkaido, Japan.

Address correspondence and reprint requests to Dr. Masafumi Matsuo, Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; matsuo{at}kobe-u.ac.jp

A contiguous deletion of the S-promoter/first S exon and its downstream exon 56 of the dystrophin gene was identified in a Japanese dystrophinopathy family in which two brothers and their half brother were affected. Characteristically, severe mental retardation cosegregated with the deletion even though they grew up in different environments. Furthermore, mild cerebral atrophy was observed by CT scan and MRI in the eldest brother.




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