کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3840791 | 1247937 | 2011 | 5 صفحه PDF | دانلود رایگان |
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.
Journal: Translational Research - Volume 157, Issue 1, January 2011, Pages 48–52