https://doi.org/10.18502/ijrm.v21i8.14022
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authors
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Pooneh Nikuei
Pooneh Nikuei
Hormozgan State of Welfare Organization, Bandar Abbas, Iran.
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Zahra Khashavy
Zahra Khashavy
Gambron Royan Infertility Center, Bandar Abbas, Iran.
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Mohammad Ali Farazi Fard
Mohammad Ali Farazi Fard
Persian Bayan Gene Research and Training Center, Shiraz, Iran.
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Shahrzad Tabasi
Shahrzad Tabasi
Department of Clinical Pharmacy, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
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Ari Zeidi
Ari Zeidi
New York University, NY, USA.
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Parnian Pourkashani
Parnian Pourkashani
Iran University of Medical Sciences, Tehran, Iran.
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Zahra Tabatabaei
Zahra Tabatabaei
Persian Bayan Gene Research and Training Center, Shiraz, Iran.
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Ebrahim Eftekhar
Ebrahim Eftekhar
Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
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Mozhgan Saberi
Mozhgan Saberi
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
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Frouzandeh Mahjoubi
Frouzandeh Mahjoubi
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Published Date
- Sep 14, 2023
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report
Abstract
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.
Key words: Anophthalmos, SOX2 anophthalmia syndrome, Mosaicism.
References
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