Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis. (4th March 2022)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Ophthalmic genetics. Volume 43:Number 2(2022)
• Page Start: 262
• Page End: 267
• Publication Date: 2022-03-04
• Subjects: Microphthalmia -- OTX2 -- targeted gene sequencing panels -- prenatal diagnosis; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.2002915
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: 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.