Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues |
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Authors: | Kerry Baldwin Jedele Dagmar Wahl Soheyla Chahrokh-Zadeh Antje Wirtz Jan Murken Elke Holinski-Feder |
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Institution: | Department of Medical Genetics, University of Munich, Augsburg, Germany;Medical Geneticist, Augsburg, Germany |
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Abstract: | Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other trinucleotide repeat diseases, SBMA shows limited meiotic instability, and evidence thus far indicates absence of somatic instability in adults. Data regarding the presence of fetal tissue somatic mosaicism is unavailable. We present a family in which a woman whose father had SBMA requested prenatal testing. After informed consent, molecular genetic evaluation showed the male fetus to carry the SBMA repeat elongation. Testing of fetal tissues after elective pregnancy termination showed no somatic mosaicism in the CAG repeat length. This is the first report of molecular genetic analysis of multiple tissues in an affected fetus, and only the second report of prenatal diagnosis in SBMA. |
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Keywords: | fetal spinal and bulbar muscular atrophy trinucleotide repeat |
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