Unusual features in the inheritance of ataxia telangiectasia

✍ Scribed by C. G. Woods; S. E. Bundey; A. M. R. Taylor

• Publisher: Springer
• Year: 1990
• Tongue: English
• Weight: 832 KB
• Volume: 84
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00210809

✦ Synopsis

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.