Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, Nazia Ibrahim, Shagufta Naz, Saima Sharif, Saghar Ghasemi Firouzabadi, Shohreh Vosoogh, Radoslava Saraeva-Lamri, Laure Raymond, Carlos Trujillo, Nicolas Guex, Stylianos E Antonarakis, Muhammad Ansar, Hossein Darvish, Ru-Juan Liu, Jean-Yves Roignant, Alexandre Reymond
PURPOSE: 5-methylcytosine (m5 C) RNA modifications are driven by NSUN methyltransferases. While variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases (NDD), the physiological role of NSUN6 modifications on tRNAs and mRNAs remained elusive. METHODS: We combined exome sequencing of consanguineous families with functional characterization to identify a new NDD gene. RESULTS: We identified three unrelated consanguineous families with deleterious homozygous variants in NSUN6...
May 21, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics