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FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
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Wei-De Lin
Published/Copyright:
February 26, 2010
Abstract
Background: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (FOXL2) gene, a member of winged/forkhead transcription factor family, are responsible for both types of BPES. The purpose of this study was to identify mutations in FOXL2 in Taiwanese patients with BPES.
Methods: The karyotype and genomic DNA was prepared from the leukocytes of peripheral venous blood samples. The coding and flanking region sequences of FOXL2 were analyzed by directed or cloning sequencing.
Results: The karyotypes of these patients did not show significant variation, especially on the 3q23 region. Two mutations in FOXL2 were identified in two familial cases. One was c.855-871dup (17-bp insertion) associated with POF. The other was c.384G>A (TGG>TGA), a novel mutation that resulted in non-sense changes of the encoded protein, i.e., p.W128X.
Conclusions: Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2 in Taiwanese BPES patients.
Clin Chem Lab Med 2010;48:485–8.
Received: 2009-10-8
Accepted: 2009-12-4
Published Online: 2010-02-26
Published in Print: 2010-04-01
©2010 by Walter de Gruyter Berlin New York
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Keywords for this article
blepharophimosis, ptosis, epicanthus inversus syndrome (BPES);
FOXL2;
gene mutation
Articles in the same Issue
- Editorials
- Molecular biology and genetics in clinical chemistry and laboratory medicine
- Improving the post-analytical phase
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- State of the art in therapeutic drug monitoring
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