Prenatal diagnosis of Batten's disease
1996; Elsevier BV; Volume: 347; Issue: 9007 Linguagem: Inglês
10.1016/s0140-6736(96)90148-8
ISSN1474-547X
AutoresPatricia B. Munroe, Hannah M. Mitchison, Sara Mole, R M Gardiner, Juhani Rapola, Aki Mustonen, Irma Järvelä,
Tópico(s)RNA regulation and disease
ResumoSummary Background Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1 kb deletion, which is carried by 81% of Batten's disease patients. We report on the use of direct gene analysis in the prenatal diagnosis of this disease. Methods and findings A Finnish woman with a son with Batten's disease came for genetic counselling for her current pregnancy. Electron microscopy of a chorionic villus sample gave suggestive findings. We used PCR to look for the intragenic microsatellite marker D16S298; 96% of Finnish Batten's disease patients carry allele 6 at this marker. The fetus and the affected son both carried the same high-risk genotype, 6/6. Both were homozygous for the 1 kb deletion. The pregnancy was terminated. Electron microscopy of the fetus showed typical Batten's disease changes. Interpretation We have successfully used direct gene analysis in the prenatal diagnosis of Batten's disease.
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