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Article

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

1
Child Neuropsychiatry Unit, Azienda USL di Parma, 43121 Parma, Italy
2
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
3
Post Graduate School of Paediatrics, University of Modena and Reggio Emilia, 41124 Modena, Italy
4
Molecular Biology Laboratory, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
5
Clinical Genomics, Centre Nacional d’Anàlisi Genòmica, Centre de Regulació Genòmica, 08016 Barcelona, Spain
6
Laboratory of Human Genetics, Galliera Hospital, 16128 Genoa, Italy
7
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Giovanni Neri
Received: 24 May 2021 / Revised: 4 June 2021 / Accepted: 8 June 2021 / Published: 10 June 2021
(This article belongs to the Special Issue Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases)
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. View Full-Text
Keywords: NAA10-related syndrome; X-linked disorder; syndromic and non-syndromic intellectual disability; genotype–phenotype correlation NAA10-related syndrome; X-linked disorder; syndromic and non-syndromic intellectual disability; genotype–phenotype correlation
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MDPI and ACS Style

Maini, I.; Caraffi, S.G.; 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 2021, 12, 900. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12060900

AMA Style

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. 2021; 12(6):900. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12060900

Chicago/Turabian Style

Maini, Ilenia, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, and Livia Garavelli. 2021. "Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females" Genes 12, no. 6: 900. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12060900

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