'Pseudo-dominant' inheritance in Friedreich's ataxia

A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in a...

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Bibliographic Details
Published in:Journal of medical genetics 1981-08, Vol.18 (4), p.285-287
Main Authors: Harding, A E, Zilkha, K J
Format: Article
Language:English
Subjects:
Ataxia - genetics
Female
Gene Frequency
Genes, Dominant
Genetic Carrier Screening
Genetic Counseling
Humans
Male
Mathematics
Pedigree
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Summary:A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.18.4.285