BACKGROUND: Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb 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.
BACKGROUND:Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb deletion, which is carried by 81% of Batten's diseasepatients. 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 diseasepatients 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.
Authors: P B Munroe; H M Mitchison; A M O'Rawe; J W Anderson; R M Boustany; T J Lerner; P E Taschner; N de Vos; M H Breuning; R M Gardiner; S E Mole Journal: Am J Hum Genet Date: 1997-08 Impact factor: 11.025
Authors: Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer Journal: Nat Rev Neurol Date: 2019-03 Impact factor: 42.937