التفاصيل البيبلوغرافية
العنوان: |
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females |
المؤلفون: |
Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli |
المصدر: |
Genes; Volume 12; Issue 6; Pages: 900 |
بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
سنة النشر: |
2021 |
المجموعة: |
MDPI Open Access Publishing |
مصطلحات موضوعية: |
NAA10 -related syndrome, X-linked disorder, syndromic and non-syndromic intellectual disability, genotype–phenotype correlation |
جغرافية الموضوع: |
agris |
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. |
نوع الوثيقة: |
text |
وصف الملف: |
application/pdf |
اللغة: |
English |
العلاقة: |
Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12060900Test |
DOI: |
10.3390/genes12060900 |
الإتاحة: |
https://doi.org/10.3390/genes12060900Test |
حقوق: |
https://creativecommons.org/licenses/by/4.0Test/ |
رقم الانضمام: |
edsbas.5076CA44 |
قاعدة البيانات: |
BASE |