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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1993-6-11
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pubmed:abstractText |
The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5' fragile X gene (FMR-1) at the molecular level. We have studied the FMR-1 gene of a patient with the fragile X phenotype but without cytogenetic expression of FRAXA, a (CGG)n repeat of normal length and an unmethylated CpG island. We find a single point mutation in FMR-1 resulting in an lle367Asn substitution. This de novo mutation is absent in the patient's family and in 130 control X chromosomes, suggesting that the mutation causes the clinical abnormalities. Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
3
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pubmed:geneSymbol |
FMR-1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
31-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8490650-Adult,
pubmed-meshheading:8490650-Amino Acid Sequence,
pubmed-meshheading:8490650-Base Sequence,
pubmed-meshheading:8490650-Blotting, Southern,
pubmed-meshheading:8490650-Cell Line, Transformed,
pubmed-meshheading:8490650-DNA,
pubmed-meshheading:8490650-DNA Mutational Analysis,
pubmed-meshheading:8490650-Female,
pubmed-meshheading:8490650-Fragile X Mental Retardation Protein,
pubmed-meshheading:8490650-Fragile X Syndrome,
pubmed-meshheading:8490650-Humans,
pubmed-meshheading:8490650-Male,
pubmed-meshheading:8490650-Molecular Sequence Data,
pubmed-meshheading:8490650-Nerve Tissue Proteins,
pubmed-meshheading:8490650-Pedigree,
pubmed-meshheading:8490650-Point Mutation,
pubmed-meshheading:8490650-Polymerase Chain Reaction,
pubmed-meshheading:8490650-RNA, Messenger,
pubmed-meshheading:8490650-RNA-Binding Proteins,
pubmed-meshheading:8490650-Repetitive Sequences, Nucleic Acid
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pubmed:year |
1993
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pubmed:articleTitle |
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
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pubmed:affiliation |
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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