Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-4-13
pubmed:abstractText
Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport. However, between 1% and 5% of mutations are single base changes in the sequence of the FRDA gene, causing missense, nonsense, or splicing mutations. We describe three new mutations, IVS4nt2 (T to G), R165C, and L182F, which occur in patients in association with GAA expansions. These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype. Missense mutations, even in highly evolutionally conserved amino acids, may cause a mild or severe phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1364-6745
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
253-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10732799-Adaptor Proteins, Signal Transducing, pubmed-meshheading:10732799-Adolescent, pubmed-meshheading:10732799-Adult, pubmed-meshheading:10732799-Alternative Splicing, pubmed-meshheading:10732799-Child, pubmed-meshheading:10732799-Child, Preschool, pubmed-meshheading:10732799-Echocardiography, pubmed-meshheading:10732799-Electrocardiography, pubmed-meshheading:10732799-Exons, pubmed-meshheading:10732799-Female, pubmed-meshheading:10732799-Friedreich Ataxia, pubmed-meshheading:10732799-Humans, pubmed-meshheading:10732799-Male, pubmed-meshheading:10732799-Nerve Tissue Proteins, pubmed-meshheading:10732799-Penetrance, pubmed-meshheading:10732799-Phenotype, pubmed-meshheading:10732799-Point Mutation, pubmed-meshheading:10732799-Predictive Value of Tests, pubmed-meshheading:10732799-Sequence Analysis, DNA, pubmed-meshheading:10732799-Trinucleotide Repeat Expansion
pubmed:year
1998
pubmed:articleTitle
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
pubmed:affiliation
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't