RGD Reference Report - G130V, a common FRDA point mutation, appears to have arisen from a common founder. - Rat Genome Database

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G130V, a common FRDA point mutation, appears to have arisen from a common founder.

Authors: Delatycki, MB  Knight, M  Koenig, M  Cossee, M  Williamson, R  Forrest, SM 
Citation: Delatycki MB, etal., Hum Genet. 1999 Oct;105(4):343-6.
RGD ID: 1598961
Pubmed: PMID:10543403   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Friedreich ataxia  IAGP 1598961DNA:point mutation:exon:p.G130VRGD 
Friedreich ataxia  ISOFXN (Homo sapiens)1598961; 1598961DNA:point mutation:exon:p.G130VRGD 

Objects Annotated

Genes (Rattus norvegicus)
Fxn  (frataxin)

Genes (Mus musculus)
Fxn  (frataxin)

Genes (Homo sapiens)
FXN  (frataxin)


Additional Information