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ArticleTitle | Genetic Diagnosis of Werdnig-Hoffmann Disease: A Problem for Application to Prenatal Diagnosis |
AuthorList | Makoto Migita1, 2, Yohko Uchikoba1, Hideo Orimo2, Takashi Shimada1, 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 |
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