|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1992-9-1
|
|
pubmed:abstractText |
A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site. The EcoRI fragment also includes an HTF island that is hypermethylated in fragile-X patients showing absence of FMR-1 mRNA. In this paper, we present further evidence that the FMR-1 gene is involved in the clinical manifestation of the fragile-X syndrome and also in the expression of the cellular phenotype. A deletion including the HTF island and exons of the FMR-1 gene was detected in a fragile X-negative mentally retarded male who presented the clinical phenotype of the fragile-X syndrome. The deletion involves less than 250 kb of genomic DNA, including DXS548 and at least five exons of the FMR-1 gene. These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome. In the fragile-X syndrome, there are pathogenetic mechanisms other than amplification of the CGG repeat that do have the same phenotypic consequences.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1671806,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1672039,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1675488,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1710175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1715307,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1757957,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1878973,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1886762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-1997211,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2031184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2031189,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2041732,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2045104,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2062644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2227957,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-2339126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-3692144,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-3838733,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-4040705,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-5794013,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-6712153,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1642231-877551
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0002-9297
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
51
|
|
pubmed:geneSymbol |
FMR-1
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
N
|
|
pubmed:pagination |
299-306
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:1642231-Base Sequence,
pubmed-meshheading:1642231-Child,
pubmed-meshheading:1642231-Chromosome Deletion,
pubmed-meshheading:1642231-DNA,
pubmed-meshheading:1642231-DNA Probes,
pubmed-meshheading:1642231-Female,
pubmed-meshheading:1642231-Fragile X Mental Retardation Protein,
pubmed-meshheading:1642231-Fragile X Syndrome,
pubmed-meshheading:1642231-Humans,
pubmed-meshheading:1642231-Male,
pubmed-meshheading:1642231-Molecular Sequence Data,
pubmed-meshheading:1642231-Nerve Tissue Proteins,
pubmed-meshheading:1642231-Nucleic Acid Hybridization,
pubmed-meshheading:1642231-Phenotype,
pubmed-meshheading:1642231-Polymerase Chain Reaction,
pubmed-meshheading:1642231-RNA, Messenger,
pubmed-meshheading:1642231-RNA-Binding Proteins,
pubmed-meshheading:1642231-Restriction Mapping
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
|
|
pubmed:affiliation |
Abteilung Klinische Genetik, Universität Ulm, Germany.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
