2026-04-17T16:10:08Zhttps://recercat.cat/oai/request

oai:recercat.cat:10230/490302025-12-12T04:03:46Zcom_2072_6col_2072_452952

00925njm 22002777a 4500 dc Maini, Ilenia author Caraffi, Stefano G. author Peluso, Francesca author Valeri, Lara author Nicoli, Davide author Laurie, Steven, 1973- author Baldo, Chiara author Zuffardi, Orsetta author Garavelli, Livia author 2021-11-22T07:50:05Z 2021-11-22T07:50:05Z 2021 Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 variants have been reported as causative of syndromic or non-syndromic intellectual disability in both males and females. The NAA10 gene lies in the Xq28 region and encodes the catalytic subunit of the major N-terminal acetyltransferase complex NatA, which acetylates almost half the human proteome. Here, we present a young female carrying a de novo NAA10 [NM_003491:c.247C > T, p.(Arg83Cys)] variant. The 18-year-old girl has severely delayed motor and language development, autistic traits, postnatal growth failure, facial dysmorphisms, interventricular septal defect, neuroimaging anomalies and epilepsy. Our attempt is to expand and compare genotype-phenotype correlation in females with NAA10-related syndrome. A detailed clinical description could have relevant consequences for the clinical management of known and newly identified individuals. This work has received funding from the European Community’s Seventh Framework Program (FP7/2007–2013) under grant agreement n 305444 “RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research”. NAA10-related syndrome X-linked disorder Genotype–phenotype correlation Syndromic and non-syndromic intellectual disability Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females