Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report

Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 could result in severe ocular phenotypes usually associated variable systemic defects. Most patients described syndrome possessed de novo this gene.
 Case Presentation: In case report, we describe brothers mental retardation and caused due germline mosaicism unaffected parents. Next-generation DNA sequencing was carried out determine the family’s possible cause of genetic mutation. Sanger performed on their Prenatal diagnosis done both pregnancies older brother’s wife via chorionic villus sampling. A novel heterozygous pathogenic frameshift deletion variant (exon1:c.58_80del:p.G20fs) identified gene, which confirmed by affected did not exist healthy parents, indicating mosaicism.
 Conclusion: known look arise probands are diagnosed through or microphthalmia. should be offered parents a child mutation every pregnancy.
 Key words: Anophthalmos, syndrome, Mosaicism.