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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1999-6-24
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pubmed:abstractText |
Absence or deficit of FMR1 protein (FMRP) resulting from methylation of full mutation genes is the fundamental defect in fragile X syndrome. We used FMRP immunocytochemistry and detailed phenotypic assessment to investigate the relationship between degree of FMRP expression and the broad clinical spectrum of impairment in 80 individuals affected with fragile X syndrome. FMRP expression correlated with IQ in mosaic males (P=0.043), males with a partially methylated full mutation (P=0.0005), and females with a full mutation (P=0.046). In the females, FMRP expression also correlated with the number of fragile X physical features (P=0.0003). Even modest deficits in FMRP result in some manifestations of fragile X syndrome. In this initial study of 53 males, FMRP expression testing had a very high positive predictive value (100%, confidence interval of 29-100%) for a nonretarded IQ among males with expression of FMRP in > or = 50% of lymphocytes (3 males), suggesting that FMRP expression may have potential as a prognostic indicator in males with fragile X syndrome.
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pubmed:grant |
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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 |
May
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
28
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pubmed:volume |
84
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
250-61
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:10331602-Adolescent,
pubmed-meshheading:10331602-Adult,
pubmed-meshheading:10331602-Child,
pubmed-meshheading:10331602-Child, Preschool,
pubmed-meshheading:10331602-DNA,
pubmed-meshheading:10331602-Female,
pubmed-meshheading:10331602-Fragile X Mental Retardation Protein,
pubmed-meshheading:10331602-Fragile X Syndrome,
pubmed-meshheading:10331602-Gene Expression,
pubmed-meshheading:10331602-Humans,
pubmed-meshheading:10331602-Immunohistochemistry,
pubmed-meshheading:10331602-Infant,
pubmed-meshheading:10331602-Linear Models,
pubmed-meshheading:10331602-Male,
pubmed-meshheading:10331602-Middle Aged,
pubmed-meshheading:10331602-Mosaicism,
pubmed-meshheading:10331602-Nerve Tissue Proteins,
pubmed-meshheading:10331602-Phenotype,
pubmed-meshheading:10331602-Predictive Value of Tests,
pubmed-meshheading:10331602-Prognosis,
pubmed-meshheading:10331602-RNA-Binding Proteins
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pubmed:year |
1999
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pubmed:articleTitle |
FMRP expression as a potential prognostic indicator in fragile X syndrome.
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pubmed:affiliation |
Kimball Genetics Inc., Child Department Unit, The Children's Hospital, Denver, Colorado 80206, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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