Unusual features in the inheritance of ataxia telangiectasia.
A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The prevalence in those aged 50 or less was found to be 1 in 514,000 and the birth frequency to be about 1 in 300,000. A genetic study of 47 families ascertained throughout the United Kingdom was carried out concurrently. A low parental consanguinity rate was found, no parents being first cousins or more closely related, whereas 10% had been expected. The incidence of ataxia telangiectasia in the 79 sibs of index cases was 1 in 7. These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition. Other possible explanations are that some cases are double heterozygotes or new dominant mutations.
Woods
C G
CG
Sub Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, Edgbaston, UK.
Bundey
S E
SE
Taylor
A M
AM
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000453:epidemiology / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000528:radiation effects; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D006113:United Kingdom / Q000453:epidemiology