Early onset of Friedreich's ataxia in a compound heterozygote.
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.
McGovern
M C
MC
Craigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK.
Stewart
M
M
Morrison
P J
PJ
Webb
D
D
Hawkins
S
S
D017668:Age of Onset; D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*