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 four 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.
Source: Congenital Anomalies - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research