Document Detail


Clinical involvement and protein expression in individuals with the FMR1 premutation.
MedLine Citation:
PMID:  10748416     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Most individuals with the fragile X premutation are clinically unaffected; however, some show clinical manifestations, including learning difficulties, emotional problems, or even mental retardation. The basis of clinical involvement in these individuals is unknown. Premutation alleles are reportedly associated with normal levels of mRNA and protein (FMRP). To examine this issue in more detail, we studied six individuals with a premutation. We are reporting these cases to demonstrate a spectrum of phenotypic involvement which can be seen clinically. These cases include one individual with the premutation who has no evidence of FMR1 gene dysfunction but has mental retardation from other causes. Other cases presented here show varying degrees of FMR1 gene dysfunction as assessed by FMRP and FMR1 mRNA levels and various clinical features of fragile X. In two cases we observed a significant reduction in FMRP expression and an elevated FMR1 mRNA expression level associated with moderate cognitive deficit. Thus, the utilization of FMRP measures can be helpful in understanding for which premutation patients clinical involvement is caused by dysfunction of the FMR1 gene.
Authors:
F Tassone; R J Hagerman; A K Taylor; J B Mills; S W Harris; L W Gane; P J Hagerman
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Publication Detail:
Type:  Case Reports; 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:  91     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-04-21     Completed Date:  2000-04-21     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:  144-52     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Affiliation:
Department of Biochemistry and Molecular Genetics, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis
Adolescent
Adult
Alleles
Behavioral Symptoms
Child
Child, Preschool
DNA Methylation
Family Health
Fathers
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics
Heterozygote
Humans
Immunohistochemistry
Male
Mothers
Nerve Tissue Proteins / biosynthesis,  genetics*
Phenotype
RNA, Messenger / metabolism
RNA-Binding Proteins*
Trinucleotide Repeats
Grant Support
ID/Acronym/Agency:
GM52557/GM/NIGMS NIH HHS; HD36071/HD/NICHD NIH HHS; MCJ-089413//PHS HHS
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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