Balkan Journal of Medical Genetics

DE NOVO TINF2 C.845G>A: PATHOGENIC VARIANT IN PATIENT WITH DYSKERATOSIS CONGENITA
Kocheva SA, Gjorgjievska M, Martinova K, Antevska-Trajkova Z, Jovanovska A, Plaseska-Karanfilska D
*Corresponding Author: Svetlana Kocheva, MD, PhD, Department of Hematology and Oncology Children’s Diseases, Majka Tereza 17, Skopje, North Macedonia, tel. +38971378184 e-mail: dr.kocheva@gmail.com
page: 89

GENETIC ANALYSIS AND RESULTS

We performed clinical exome sequencing on a MiSeq desktop sequencer, using TruSight One kit (Illumina) for the proband. The analysis revealed the presence of the known pathogenic variant c.845G>A, p.(Arg282His), in a heterozygous state, in the TINF2 gene (Figure 1). Amplification and Sanger sequencing of TINF2 exon 6 showed the absence of the variant in the proband’s parents. DNA analysis using the AmpFLSTR Identifiler PCR Amplification Kit confirmed the biological relationship between the child and his parents. Thus, the TINF2 c.845G>A variant has arisen as a de novo event in the proband. Schematic representation of the pathogenic TINF2 gene variants is presented in Figure 2.

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