Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature
Por:
Quiroz-Casian N., Chacon-Camacho O.F., Barragan-Arevalo T., Nava-Valdez J., Lieberman E., Salgado-Medina A., Navas A., Graue-Hernandez E.O., Zenteno J.C.
Publicada:
1 sep 2018
Categoría:
Ophthalmology
Resumen:
Purpose:To describe 2 sporadic Mexican patients having congenital
bilateral, total sclerocornea, aphakia, and microphthalmia associated
with novel mutations in the FOXE3 gene.Methods:Two affected individuals
with congenital bilateral, total sclerocornea, aphakia, and
microphthalmia underwent detailed examinations including slit-lamp
examination, visual acuity, and intraocular pressure measurements.
Ocular ultrasonography and ultrasound biomicroscopy were performed.
Genomic DNA was isolated from blood leukocytes in each subject, and
molecular analysis of the FOXE3 gene was performed. For cosegregation
analysis, presumable pathogenic variants were tested by Sanger
sequencing in parental DNA.Results:Molecular screening of FOXE3 was
performed in 2 cases with congenital bilateral, total sclerocornea,
aphakia, and microphthalmia. In patient 1, genetic analysis demonstrated
a novel homozygous c.291C>G (p.Ile97Met) FOXE3 pathogenic variant. In
patient 2, compound heterozygosity for the novel c.387C>G (p.Phe129Leu)
transversion and for the previously reported c.244A>G (p.Met82Val)
transition, was recognized.Conclusions:The
sclerocornea-microphthalmia-aphakia complex is a severe malformative
ocular phenotype resulting from mutations in the FOXE3 transcription
factor. To date, patients from at least 14 families with this uncommon
ocular disorder have been described. The identification of 2 novel
pathogenic variants in our patients expands the mutational spectrum in
FOXE3-related congenital eye disorders. In addition, we performed a
review of the clinical and genotypic characteristics of all published
patients carrying biallelic FOXE3 mutations.
Filiaciones:
Quiroz-Casian N.:
Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Chacon-Camacho O.F.:
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Barragan-Arevalo T.:
Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico
Nava-Valdez J.:
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Lieberman E.:
Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico
Salgado-Medina A.:
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Navas A.:
Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Graue-Hernandez E.O.:
Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Zenteno J.C.:
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico
Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico
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