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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.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.issn 2073-4425
dc.identifier.uri http://hdl.handle.net/10230/49030
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.language.iso eng
dc.publisher MDPI
dc.relation.ispartof Genes (Basel). 2021;12(6):900
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.uri http://creativecommons.org/licenses/by/4.0/
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.identifier.doi http://dx.doi.org/10.3390/genes12060900
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.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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