Linked Life Data

19836446

Source:http://linkedlifedata.com/resource/pubmed/id/19836446

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-2-26
pubmed:abstractText
Most common inherited form of intellectual disability, fragile X syndrome is associated to an expansion of greater than 200 CGG repeats in the 5' untranslated region of the FMR1 gene on the X chromosome which causes transcriptional silencing and deficiency of the encoded protein FMRP. Molecular diagnosis is performed through a combination of PCR to identify fewer than 100-150 repeats and of Southern blot analysis to identify longer alleles and the methylation status of the FMR1 promoter. We present a family with one patient with mild mental retardation who showed an atypical profile at Southern analysis due to the -413C > G transversion located in the FMR1 promoter which had been described as possibly associated with mental retardation. We demonstrated this variant in other four family members along three generations, including the maternal grandfather who did not manifest any pathological feature. Though the -413C > G substitution was not found in a large control series, these findings allowed to exclude its role in determining the disease phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1096-1194
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
107-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
pubmed:affiliation
Laboratory of Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy. marina.grasso@galliera.it <marina.grasso@galliera.it>
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't