Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis
| Autor: | Nioosha Mostofinezhad, Saeed Reza Ghaffari, Zeinab Barati, Laya Fakhri, Fatemeh Hoseininasab, Faezeh Mohamadhashem, Azadeh Hoseini, Amir Hosein Mahmoudi, Somayeh Darzi Ramandi, Koosha Jalilian, Maryam Rafati, Hosna Amiri |
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| Rok vydání: | 2021 |
| Předmět: |
Sanger sequencing
Proband business.industry Genetic counseling Prenatal diagnosis Computational biology medicine.disease Microphthalmia DNA sequencing Frameshift mutation Ophthalmology symbols.namesake Pediatrics Perinatology and Child Health symbols medicine Eye disorder business Genetics (clinical) |
| Zdroj: | Ophthalmic Genetics. 43:262-267 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2021.2002915 |
| Popis: | BACKGROUND Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with coloboma and microphthalmia, a highly heterogeneous disease with intrafamilial phenotypic variability. MATERIALS AND METHODS Next generation sequencing using a targeted panel of 316 genes, was carried out in the proband. Prioritized variants were then identified and confirmed using Sanger sequencing. Prenatal diagnosis of the detected variant was then performed in the family. RESULTS A novel de novo frameshift variant c.157_164delTTCACTCG (p.Phe53fs) in OTX2, leading to a truncated protein, was identified. Prenatal diagnosis identified the same variant in the fetus. CONCLUSIONS This report demonstrates the importance of genetic counseling and underscores the efficiency and effectiveness of targeted NGS as a means of detecting variants in inherited eye disorders. |
| Databáze: | OpenAIRE |
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