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Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

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-...

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Autores principales: Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230408/
https://www.ncbi.nlm.nih.gov/pubmed/34200686
http://dx.doi.org/10.3390/genes12060900
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author Maini, Ilenia
Caraffi, Stefano G.
Peluso, Francesca
Valeri, Lara
Nicoli, Davide
Laurie, Steven
Baldo, Chiara
Zuffardi, Orsetta
Garavelli, Livia
author_facet Maini, Ilenia
Caraffi, Stefano G.
Peluso, Francesca
Valeri, Lara
Nicoli, Davide
Laurie, Steven
Baldo, Chiara
Zuffardi, Orsetta
Garavelli, Livia
author_sort Maini, Ilenia
collection PubMed
description 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.
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spelling pubmed-82304082021-06-26 Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females Maini, Ilenia Caraffi, Stefano G. Peluso, Francesca Valeri, Lara Nicoli, Davide Laurie, Steven Baldo, Chiara Zuffardi, Orsetta Garavelli, Livia Genes (Basel) Article 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. MDPI 2021-06-10 /pmc/articles/PMC8230408/ /pubmed/34200686 http://dx.doi.org/10.3390/genes12060900 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Maini, Ilenia
Caraffi, Stefano G.
Peluso, Francesca
Valeri, Lara
Nicoli, Davide
Laurie, Steven
Baldo, Chiara
Zuffardi, Orsetta
Garavelli, Livia
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title_full Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title_fullStr Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title_full_unstemmed Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title_short Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
title_sort clinical manifestations in a girl with naa10-related syndrome and genotype–phenotype correlation in females
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230408/
https://www.ncbi.nlm.nih.gov/pubmed/34200686
http://dx.doi.org/10.3390/genes12060900
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