title: G130V, a common FRDA point mutation, appears to have arisen from a common founder.
abstract: Friedreich ataxia (FRDA) is the most common inherited ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the affected gene, FRDA. The other 2% are point mutations. Of the 17 point mutations so far described, three appear to be more common. One of these is the G130V mutation in exon 4 of FRDA. G130V, when present with an expanded GAA repeat on the other allele, is associated with an atypical FRDA phenotype. Haplotype analysis was undertaken on the four families who have been described with this mutation. The results suggest a common founder for this mutation. Although marked differences in extragenic marker haplotypes were seen in one family, similar intragenic haplotyping suggests the same mutation founder for this family with the differences explicable by two recombination events.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Victoria, Australia. delatycm@cryptic.rch.unimelb.edu.au
authors.forename: M B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: M
authors.initials: M
authors.lastname: Knight
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: M
authors.initials: M
authors.lastname: Cossée
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: S M
authors.initials: SM
authors.lastname: Forrest
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D005260:Female; D018703:Founder Effect; D005621:Friedreich Ataxia / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018911:Trinucleotide Repeats
chemical_list: C079091:APBA1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D009419:Nerve Tissue Proteins