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Mutagenesis Advance Access originally published online on July 10, 2009
Mutagenesis 2009 24(5):447-453; doi:10.1093/mutage/gep028
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© The Author 2009. Published by Oxford University Press on behalf of the UK Environmental Mutagen Society. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

FOXL2 gene mutations and blepharophimosis–ptosis–epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records

Yan Xu, Huo Lei1, Hong Dong, Liping Zhang, Qionglian Qin1, Jianmei Gao, Yunlian Zou and Xinmin Yan*

Institute of Clinical and Basic Medical Sciences 1Department of Ophthalmology, The First People's Hospital of Yunnan Province (The Kunhua Affiliated Hospital of Kunming Medical College), 157 Jinbi Road, Kunming 650032, People's Republic of China

Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype–phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype–phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype–phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.

* To whom correspondence should be addressed. Tel: +86 871 3619076; Fax: +86 871 3619076; Email: yxmin08{at}163.com

Received on November 24, 2008; revised on April 29, 2009; accepted on June 15, 2009.


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