title: Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.
abstract: Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
authors.affiliation: Universidad Icesi, Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center, Cali, Colombia.
authors.forename: Andrés Felipe
authors.initials: AF
authors.lastname: Ramirez-Botero
authors.affiliation: Universidad Icesi, Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center, Cali, Colombia.|Clinical Foundation Valle del Lili, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D002675:Child, Preschool; D003105:Colombia; D004252:DNA Mutational Analysis; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D055748:SOXB1 Transcription Factors
keywords: SOX2 gene; Syndromic microphthalmia; congenital malformations