Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females
| العنوان: | Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females |
|---|---|
| المؤلفون: | Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo |
| المصدر: | Genes, Vol 12, Iss 900, p 900 (2021) Genes Volume 12 Issue 6 |
| بيانات النشر: | MDPI, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test http://hdl.handle.net/10230/49030Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4959820eb7a4625df7c276a2b4ba84f8 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |