title: Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis.
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.
authors.affiliation: Department of Pediatrics, Nippon Medical School, Tokyo, Japan. Makoto-Migita-bmb@nms.ac.jp
authors.forename: Makoto
authors.initials: M
authors.lastname: Migita
authors.forename: Makoto
authors.initials: M
authors.lastname: Migita
authors.forename: Yohko
authors.initials: Y
authors.lastname: Uchikoba
authors.forename: Hideo
authors.initials: H
authors.lastname: Orimo
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimada
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimada
authors.forename: Tae
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Jun
authors.initials: J
authors.lastname: Hayakawa
authors.forename: Osamu
authors.initials: O
authors.lastname: Fujino
authors.forename: Makiko
authors.initials: M
authors.lastname: Saitoh
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Fukunaga
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000150:complications; D009419:Nerve Tissue Proteins / Q000235:genetics; D051616:Neuronal Apoptosis-Inhibitory Protein; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins