FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
Journal
Clinical Chemistry and Laboratory Medicine
Journal Volume
48
Journal Issue
4
Pages
485-488
Date Issued
2010
Author(s)
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. 2010 by Walter de Gruyter Berlin New York.
SDGs
Other Subjects
forkhead transcription factor 2; genomic DNA; transcription factor; unclassified drug; adolescent; article; blepharophimosis; blood sampling; child; clinical article; DNA determination; epicanthus inversus syndrome; eyelid disease; female; gene mutation; gene sequence; genetic analysis; human; karyotype; leukocyte; molecular cloning; nonsense mutation; peripheral vein; premature ovarian failure; preschool child; priority journal; promoter region; ptosis; school child; Taiwan; Adolescent; Asian Continental Ancestry Group; Blepharophimosis; Blepharoptosis; Child; Child, Preschool; Eyelids; Female; Forkhead Transcription Factors; Humans; Karyotyping; Male; Mutation; Sequence Analysis, DNA; Syndrome; Taiwan
Type
journal article