FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
OBJECTIVE
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpose of this study is to identify mutations in FOXL2 of Chinese patients with BPES.


METHODS
Genomic DNA was prepared from leucocytes of peripheral venous blood. The coding regions and nearby intron sequences of FOXL2 were analyzed by cycle and cloning sequencing.


RESULTS
Four mutations in FOXL2 were identified in six families, including c.241T>C, c.650C>G, c.804dupC, and c.672_701dup. Of the four, the c.241T>C and c.650C>G were novel and would result in missense changes of the encoded proteins, i.e., p.Tyr81His and p.Ser217Cys, respectively. The c.672_701dup (p.Ala224_Ala234dup) was detected in three families, indicating a mutation hotspot. The c.804dupC (p.Gly269ArgfsX265) mutation was found in one family.


CONCLUSIONS
Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2.
Wang
Juan
J
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China. wjshuzi_zsu@yahoo.com.cn <wjshuzi_zsu@yahoo.com.cn>
Liu
Jinling
J
Zhang
Qingjiong
Q
D044466:Asian People / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D003545:Cysteine; D003596:Cytosine; D005124:Eye Abnormalities / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006147:Guanine; D006579:Heterozygote; D006639:Histidine; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D012694:Serine; D013577:Syndrome; D013941:Thymine; D014443:Tyrosine
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014443:Tyrosine; D012694:Serine; D006639:Histidine; D006147:Guanine; D003596:Cytosine; D003545:Cysteine; D013941:Thymine