Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis
| Autor: | Makoto Migita, Yohko Uchikoba, Hideo Orimo, Takashi Shimada, Tae Matsumoto, Jun Hayakawa, Osamu Fujino, Makiko Saitoh, Yoshitaka Fukunaga |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Pathology
medicine.medical_specialty Genetic counseling Prenatal diagnosis Nerve Tissue Proteins Biology Spinal Muscular Atrophies of Childhood Bioinformatics Polymerase Chain Reaction Klinefelter Syndrome Prenatal Diagnosis medicine Humans Floppy Infant Cyclic AMP Response Element-Binding Protein Pregnancy Infant Newborn RNA-Binding Proteins SMN Complex Proteins General Medicine Spinal muscular atrophy Exons medicine.disease SMA Neuronal Apoptosis-Inhibitory Protein medicine.anatomical_structure Chorionic villi Klinefelter syndrome Gene Deletion |
| Zdroj: | Journal of Nippon Medical School = Nippon Ika Daigaku zasshi. 70(1) |
| ISSN: | 1345-4676 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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