Volume 21, Issue 8 (August 2023)                   IJRM 2023, 21(8): 667-672 | Back to browse issues page

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Nikuei P, khashavi Z, Farazi Fard M A, Tabasi S, Zeidi A, Pourkashan P, et al . Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report. IJRM 2023; 21 (8) :667-672
URL: http://ijrm.ir/article-1-2750-en.html
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 Nikuei1 , Zahra Khashavi2 , Mohammad Ali Farazi Fard3 , Shahrzad Tabasi4 , Ari Zeidi5 , Parnian Pourkashan6 , Zahra Tabatabae3 , Ebrahim Eftekhar7 , Mozhgan Saberi8 , Frouzandeh Mahjoubi * 9
1- Hormozgan State of Welfare Organization, Bandar Abbas, Iran.
2- Gambron Royan Infertility Center, Bandar Abbas, Iran.
3- Persian Bayan Gene Research and Training Center, Shiraz, Iran.
4- Department of Clinical Pharmacy, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
5- New York University, NY, USA.
6- Iran University of Medical Sciences, Tehran, Iran.
7- Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
8- Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
9- Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran. , frouz@nigeb.ac.ir
Abstract:   (361 Views)
Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 mutations could result in severe ocular phenotypes usually associated with variable systemic defects. Most patients described with SOX2 anophthalmia syndrome possessed de novo mutations in this gene.
Case Presentation: In this case report, we describe 2 brothers with mental retardation and bilateral anophthalmia caused due to SOX2 germline mosaicism in unaffected parents. Next-generation DNA sequencing was carried out to determine the family’s possible cause of genetic mutation. Sanger sequencing was performed on the patients and their parents. Prenatal diagnosis was done in both pregnancies of the older brother’s wife via chorionic villus sampling. A novel heterozygous pathogenic frameshift deletion variant (exon1:c.58_80del:p.G20fs) was identified in the SOX2 gene, which was confirmed by Sanger sequencing in both affected brothers and did not exist in healthy parents, indicating germline mosaicism.
Conclusion: 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.
Keywords: Anophthalmos, SOX2 anophthalmia syndrome, Mosaicism.
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Type of Study: Original Article | Subject: Reproductive Genetics
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