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Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.

Ophthalmic genetics - 1 Apr 2022

Rafati Maryam, Mohamadhashem Faezeh, Jalilian Koosha, Hoseininasab Fatemeh, Fakhri Laya, Hoseini Azadeh, Amiri Hosna, Barati Zeinab, Darzi Ramandi Somayeh, Mostofinezhad Nioosha, Mahmoudi Amir Hosein, Ghaffari Saeed Reza

Abstract excerpt

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...

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PMID: 34791963
DOI: 10.1080/13816810.2021.2002915

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