A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.
OBJECTIVE
To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism.


METHODS
Case report.


METHODS
University medical center.


METHODS
A 28-year-old woman.


METHODS
Clinical evaluation, hormone assays, gene mutation research.


METHODS
FOXL2 gene mutation.


RESULTS
The patient with hypergonadotropic hypogonadism was diagnosed with BPES due to a new FOXL2 gene mutation.


CONCLUSIONS
Blepharophimosis-ptosis-epicanthus inversus syndrome is a rare disorder associated with premature ovarian failure (POF). The syndrome is an autosomal dominant trait that causes eyelid malformations and POF in affected women. Mutations in FOXL2 gene, located in chromosome 3, are related to the development of BPES with POF (BPES type I) or without POF (BPES type II). This report demonstrates a previously undescribed de novo mutation in the FOXL2 gene-a thymidine deletion, c.627delT (g.864delT)-in a woman with a sporadic case of BPES and POF. This mutation leads to truncated protein production that is related to a BPES type I phenotype. This report shows the importance of family history and genetic analysis in the evaluation of patients with POF and corroborates the relationship between mutations on the FOXL2 gene and ovarian insufficiency.
Corrêa
Frederico José Silva
FJ
Department of Obstetrics and Gynecology, Catholic University of Brasilia, Brasília Federal District, Brazil. fredericoj@pos.ucb.br
Tavares
Adriano Bueno
AB
Pereira
Rinaldo Wellerson
RW
Abrão
Mauricio Simões
MS
D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005143:Eyelids / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D013577:Syndrome
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors