Journal of Nippon Medical School: Vol.70 No.1 page.045

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ArticleTitle Genetic Diagnosis of Werdnig-Hoffmann Disease: A Problem for Application to Prenatal Diagnosis

AuthorList Makoto Migita^{1, 2}, Yohko Uchikoba¹, Hideo Orimo², Takashi Shimada^{1, 2}, Tae Matsumoto¹, Jun Hayakawa¹, Osamu Fujino¹, Makiko Saitoh³, Yoshitaka Fukunaga¹

Affiliation ¹Department of Pediatrics, Nippon Medical School ²Department of Biochemistry and Molecular Biology, Nippon Medical School ³Department of Pediatrics, Facutly of Medicine, the University of Tokyo

Language EN

Volume 70

Issue 1

Year 2003

Page 45-48

Received October 8, 2002

Accepted October 11, 2002

Keywords Werdnig-Hoffmann disease (spinal muscular atrophy type 1; SMA type 1), survival motor neuron gene; SMN, neuronal apoptosis inhibitory protein gene; NAIP, prenatal diagnosis, polymerase chain reaction; PCR

Abstract
We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. After genetic counseling with parents, a genetic diagnosis using DNA from the infant's peripheral blood mononuclear cells was performed. The parents' deletion of exons 7 and 8 of the survival motor neuron (smn) gene and exons 4 and 5 of the neuronal apoptosis inhibitory protein (naip) gene were noted in the infant, so he was confirmed to have SMA type 1. The parents wanted to receive a prenatal diagnosis on the next pregnancy. However this genetic test is achieved by confirming that a specific band can not be detected by PCR. Therefore, this method should be applied with great care to prenatal diagnosis using chorionic villi, which may be contaminated with maternal tissue.

Correspondence to Makoto Migita, MD, PhD, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
Makoto-Migita-bmb@nms.ac.jp

ArticleTitle	Genetic Diagnosis of Werdnig-Hoffmann Disease: A Problem for Application to Prenatal Diagnosis
AuthorList	Makoto Migita^{1, 2}, Yohko Uchikoba¹, Hideo Orimo², Takashi Shimada^{1, 2}, Tae Matsumoto¹, Jun Hayakawa¹, Osamu Fujino¹, Makiko Saitoh³, Yoshitaka Fukunaga¹
Affiliation	¹Department of Pediatrics, Nippon Medical School ²Department of Biochemistry and Molecular Biology, Nippon Medical School ³Department of Pediatrics, Facutly of Medicine, the University of Tokyo
Language	EN
Volume	70
Issue	1
Year	2003
Page	45-48
Received	October 8, 2002
Accepted	October 11, 2002
Keywords	Werdnig-Hoffmann disease (spinal muscular atrophy type 1; SMA type 1), survival motor neuron gene; SMN, neuronal apoptosis inhibitory protein gene; NAIP, prenatal diagnosis, polymerase chain reaction; PCR
Abstract	We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. After genetic counseling with parents, a genetic diagnosis using DNA from the infant's peripheral blood mononuclear cells was performed. The parents' deletion of exons 7 and 8 of the survival motor neuron (smn) gene and exons 4 and 5 of the neuronal apoptosis inhibitory protein (naip) gene were noted in the infant, so he was confirmed to have SMA type 1. The parents wanted to receive a prenatal diagnosis on the next pregnancy. However this genetic test is achieved by confirming that a specific band can not be detected by PCR. Therefore, this method should be applied with great care to prenatal diagnosis using chorionic villi, which may be contaminated with maternal tissue.
Correspondence to	Makoto Migita, MD, PhD, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan Makoto-Migita-bmb@nms.ac.jp