Article
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clinical genetics - 1 Sept 2023
D'Onofrio Gianluca, Cuccurullo Claudia, Larsen Silje Kathrine, Severino Mariasavina, D'Amico Alessandra, Brønstad Kirsten, AlOwain Mohammed, Morrison Jennifer L, Wheeler Patricia G, Webb Bryn D, Alfalah Abdullah, Iacomino Michele, Uva Paolo, Coppola Antonietta, Merla Giuseppe, Salpietro Vincenzo Damiano, Zara Federico, Striano Pasquale, Accogli Andrea, Arnesen Thomas, Bilo Leonilda
Abstract excerpt
NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder in five individuals with limited clinical information. We report two sisters harboring compound heterozygous variant (c.100C>T (p.Gln34Ter) and c.11T>C p.(Leu4Pro))...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.