Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital disorder characterized by the eponymous oculo-facial features that are, in female patients, associated either with (type 1 BPES) or without (type 2 BPES) premature ovarian failure. Both types of BPES are caused by heterozygous mutations in the FOXL2 gene, which is located in chromosome band 3q23. Chromosome aberrations such as balanced rearrangements have only rarely been observed in BPES patients but can provide valuable information about regulatory regions of FOXL2. The translocation in this patient broadens our knowledge of pathogenic mechanisms in BPES and highlights the importance of conventional cytogenetic investigations in patients with negative results of FOXL2 mutation screening as a prerequisite for optimal management and genetic counseling.
Tzschach
Andreas
A
Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Kelbova
Christina
C
Weidensee
Sabine
S
Peters
Hartmut
H
Ropers
Hans-Hilger
HH
Ullmann
Reinhard
R
Erdogan
Fikret
F
Jurkatis
Jan
J
Menzel
Corinna
C
Kalscheuer
Vera
V
Demuth
Stephanie
S
D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis / Q000235:genetics* / Q000473:pathology; D019457:Chromosome Breakage; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009666:Nose; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors