| Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. | |
| | |
MedLine Citation:
|
PMID: 19367323 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that approximately 20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile X-associated tremor/ataxia syndrome (FXTAS) occurs in one-third of all male premutation carriers older than 50 years. Besides POI and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. However there are few reports related to FXTAS penetrance among female premutation carriers or regarding these disorders recently associated to the FMR1 premutation. Therefore, we have evaluated 398 fragile X syndrome (FXS) families in an attempt to provide an estimation of the premutation associated phenotypes penetrance. Our results show that signs of FXTAS are detected in 16.5% of female premutation carriers and in 45.5% of premutated males older than 50 years. Furthermore, among females with the FMR1 premutation, penetrance of POI, thyroid disease and chronic muscle pain is 18.6, 15.9 and 24.4%, respectively. The knowledge of this data might be useful for accurate genetic counselling as well as for a better characterization of the clinical phenotypes of FMR1 premutation carriers. |
| | |
Authors:
|
Laia Rodriguez-Revenga; Irene Madrigal; Javier Pagonabarraga; Mar Xunclà; Celia Badenas; Jaime Kulisevsky; Beatriz Gomez; Montserrat Milà |
Related Documents
:
|
20158423 - Fat embolism syndrome after combined aesthetic surgery. 18407723 - Signaling noncomprehension of language: a comparison of fragile x syndrome and down syn... 9744383 - Poems syndrome: an unusual cause of bilateral optic disk swelling. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-04-15 |
Journal Detail:
|
Title: European journal of human genetics : EJHG Volume: 17 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2009 Oct |
Date Detail:
|
Created Date: 2009-09-24 Completed Date: 2009-12-14 Revised Date: 2010-12-17 |
Medline Journal Info:
|
Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
|
Languages: eng Pagination: 1359-62 Citation Subset: IM |
Affiliation:
|
CIBER de Enfermedades Raras, Barcelona, Spain. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Aged, 80 and over Family Health Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics* Genetic Predisposition to Disease* Humans Male Middle Aged Models, Genetic Mutation* Ovarian Diseases / genetics Phenotype RNA, Messenger / metabolism |
| Chemical | |
Reg. No./Substance:
|
0/FMR1 protein, human; 0/RNA, Messenger; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary...
Next Document: BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocula...