DETECTION OF A RARE MUTATION IN A NOONAN SYNDROME SUSPECTED PATIENT: A CASE REPORT

Boban Dobrevski; Elena Sukarova - Angelovska; Meri Kirijas; Gorjan Milanovski; Teodora Brnjarchevska Blazhevska; Frosina Boceska; Aleksandar Petlichkovski

doi:10.33602/mebm.3.1.7

Boban Dobrevski Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia
Elena Sukarova - Angelovska University Clinic for Pediatric Diseases, Skopje, Republic of North Macedonia
Meri Kirijas Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia
Gorjan Milanovski Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia
Teodora Brnjarchevska Blazhevska Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia
Frosina Boceska Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia
Aleksandar Petlichkovski Institute of Immunobiology and Human Genetics, Faculty of Medicine, “Ss. Cyril and Methodius” University of Skopje, Republic of North Macedonia

DOI: https://doi.org/10.33602/mebm.3.1.7

Keywords: Noonan syndrome, NGS, Genetic diagnosis

Abstract

Noonan syndrome (NS) is a genetic autosomal dominant condition, caused by mutations in PTPN11 and other genes. The aim of this report is to highlight a finding of a rare mutation in the RAF1 gene in a six-year-old child evaluated for Noonan Syndrome. An Ampliseq Research Panel covering A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SPRED1 genes was used on the Ion Torrent platform. Out of 54 variants detected, a single nucleotide missense mutation c.483T>G in the RAF1 gene was classified as likely pathogenic, based on a single previous submission to Clinvar. Further investigations may shed light on the possible role of this variant in the pathogenesis of Noonan Syndrome and other RASopathies.