FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
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.
Lin
Wei-De
WD
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
Chou
I-Ching
IC
Lee
Ni-Chung
NC
Wang
Chung-Hsing
CH
Hwu
Wuh-Liang
WL
Lin
Shuan-Pei
SP
Chao
Mei-Chyn
MC
Tsai
Yushin
Y
Tsai
Fuu-Jen
FJ
D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013624:Taiwan
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors