Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
Pooneh Nikueinull Ph DZahra KhashavyMohammad Ali Farazi FardShahrzad TabasiAri Zeidi B Sc StudentParnian PourkashaniZahra TabatabaeiEbrahim EftekharMozhgan SaberiFrouzandeh MahjoubiPublished in: International journal of reproductive biomedicine (2023)
Most SOX2 mutations known look to arise de novo in probands and are diagnosed through anophthalmia or microphthalmia. Prenatal diagnosis should be offered to healthy parents with a child with SOX2 mutation every pregnancy.