Source:http://linkedlifedata.com/resource/pubmed/id/21146150
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2010-12-14
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| pubmed:abstractText |
Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding a forkhead transcription factor, have recently been shown to cause both types of BPES. Here, we report 1 novel duplication mutation of the FOXL2 gene identified in a large Chinese family affected by type II BPES and 1 less recurrent 17-bp duplication in a large Chinese family affected by BPES of an undetermined type. These new cases give additional support to the previously reported genotype-phenotype correlations and our findings have expanded the spectrum of known mutations of the FOXL2 gene.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
AIM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1878-1810
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright © 2011 Mosby, Inc. All rights reserved.
|
| pubmed:issnType |
Electronic
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| pubmed:volume |
157
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
48-52
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| pubmed:meshHeading |
pubmed-meshheading:21146150-Asian Continental Ancestry Group,
pubmed-meshheading:21146150-Base Sequence,
pubmed-meshheading:21146150-Blepharophimosis,
pubmed-meshheading:21146150-DNA,
pubmed-meshheading:21146150-DNA Primers,
pubmed-meshheading:21146150-Female,
pubmed-meshheading:21146150-Forkhead Transcription Factors,
pubmed-meshheading:21146150-Gene Amplification,
pubmed-meshheading:21146150-Genetic Variation,
pubmed-meshheading:21146150-Humans,
pubmed-meshheading:21146150-Male,
pubmed-meshheading:21146150-Menopause, Premature,
pubmed-meshheading:21146150-Molecular Sequence Data,
pubmed-meshheading:21146150-Mutation,
pubmed-meshheading:21146150-Open Reading Frames,
pubmed-meshheading:21146150-Pedigree,
pubmed-meshheading:21146150-Reference Values,
pubmed-meshheading:21146150-Skin Abnormalities
|
| pubmed:year |
2011
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| pubmed:articleTitle |
FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
|
| pubmed:affiliation |
Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, China.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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