| FMRP expression as a potential prognostic indicator in fragile X syndrome. | |
| | |
MedLine Citation:
|
PMID: 10331602 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
F Tassone; R J Hagerman; D N Iklé; P N Dyer; M Lampe; R Willemsen; B A Oostra; A K Taylor |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: American journal of medical genetics Volume: 84 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 May |
Date Detail:
|
Created Date: 1999-06-24 Completed Date: 1999-06-24 Revised Date: 2007-11-14 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 250-61 Citation Subset: IM |
Affiliation:
|
Kimball Genetics Inc., Child Department Unit, The Children's Hospital, Denver, Colorado 80206, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Child Child, Preschool DNA / analysis Female Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Gene Expression / genetics* Humans Immunohistochemistry Infant Linear Models Male Middle Aged Mosaicism / genetics Nerve Tissue Proteins / genetics* Phenotype Predictive Value of Tests Prognosis RNA-Binding Proteins* |
| Grant Support | |
ID/Acronym/Agency:
|
MCJ-089413//PHS HHS |
| Chemical | |
Reg. No./Substance:
|
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Postmortem examination of two fragile X brothers with an FMR1 full mutation.
Next Document: Single-strand conformation polymorphism analysis in the FMR1 gene.