Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis.
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.
Migita
Makoto
M
Department of Pediatrics, Nippon Medical School, Tokyo, Japan. Makoto-Migita-bmb@nms.ac.jp
Migita
Makoto
M
Uchikoba
Yohko
Y
Orimo
Hideo
H
Shimada
Takashi
T
Shimada
Takashi
T
Matsumoto
Tae
T
Hayakawa
Jun
J
Fujino
Osamu
O
Saitoh
Makiko
M
Fukunaga
Yoshitaka
Y
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*
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