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Mutagenesis Advance Access originally published online on January 4, 2006
Mutagenesis 2006 21(1):35-39; doi:10.1093/mutage/gei067
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© The Author 2006. Published by Oxford University Press on behalf of the UK Environmental Mutagen Society. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org

Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis–ptosis–epicanthus inversus syndrome

Shengjian Tang*, Xiaoke Wang, Lixin Lin, Yan Sun, Yanli Wang and Hongbo Yu

Plastic and Reconstructive Research Institute, Weifang Medical College, Weifang 261042, Shandong Province, Peoples Republic of China

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis, ptosis and epicanthus inversus. Based on the presence and absence of premature ovarian failure, two clinical types have been distinguished. Both types of BPES have been mapped to chromosome 3q23 and are mostly due to mutations of a forkhead transcription factor FOXL2 gene which locates at this region. We screened for FOXL2 mutations in Chinese patients with BPES. A novel mutation (g.901–930dup30) which could result in an expansion of the polyalanine tract was found in two BPES type II families and one sporadic case. In addition, a new g.952delC mutation was identified in two patients from a BPES family of undetermined type. The previously reported g.892C>T (p.Q219X) was also found in 12 patients from a large BPES family of type I. No mutations were detected in three other BPES families and three sporadic cases. So we speculate that in a fraction of the BPES patients the genetic defect may represent a change in gene dosage or a rearrangement outside the transcription unit of FOXL2.

All the authors have contributed equally to this work.

* To whom correspondence should be addressed. Tel.: +86 536 821 3227; Fax: +86 536 821 1370; Email: tsj1950{at}163.com


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Y. Xu, H. Lei, H. Dong, L. Zhang, Q. Qin, J. Gao, Y. Zou, and X. Yan
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
Mutagenesis, September 1, 2009; 24(5): 447 - 453.
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