Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females

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• dc.contributor.author Maini, Ilenia
• dc.contributor.author Caraffi, Stefano G.
• dc.contributor.author Peluso, Francesca
• dc.contributor.author Valeri, Lara
• dc.contributor.author Nicoli, Davide
• dc.contributor.author Laurie, Steven, 1973-
• dc.contributor.author Baldo, Chiara
• dc.contributor.author Zuffardi, Orsetta
• dc.contributor.author Garavelli, Livia
• dc.date.accessioned 2021-11-22T07:50:05Z
• dc.date.available 2021-11-22T07:50:05Z
• dc.date.issued 2021
• dc.description.abstract 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.
• dc.description.sponsorship 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”.
• dc.format.mimetype application/pdf
• dc.identifier.citation Maini I, Caraffi SG, Peluso F, Valeri L, Nicoli D, Laurie S, Baldo C, Zuffardi O, Garavelli L. Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females. Genes (Basel). 2021;12(6):900. DOI: 10.3390/genes12060900
• dc.identifier.doi http://dx.doi.org/10.3390/genes12060900
• dc.identifier.issn 2073-4425
• dc.identifier.uri http://hdl.handle.net/10230/49030
• dc.language.iso eng
• dc.publisher MDPI
• dc.relation.ispartof Genes (Basel). 2021;12(6):900
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
• dc.rights © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword NAA10-related syndrome
• dc.subject.keyword X-linked disorder
• dc.subject.keyword Genotype–phenotype correlation
• dc.subject.keyword Syndromic and non-syndromic intellectual disability
• dc.title Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion