Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
Open Access
- 10 June 2021
- Vol. 12 (6), 900
- https://doi.org/10.3390/genes12060900
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.This publication has 30 references indexed in Scilit:
- A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeJournal of Medical Genetics, 2014
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyThe Lancet, 2012
- Protein N-terminal acetyltransferases: when the start mattersTrends in Biochemical Sciences, 2012
- Protein N-terminal acetyltransferases in cancerOncogene, 2012
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase DeficiencyAmerican Journal of Human Genetics, 2011
- hNaa10p contributes to tumorigenesis by facilitating DNMT1-mediated tumor suppressor gene silencingJCI Insight, 2010
- Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humansProceedings of the National Academy of Sciences of the United States of America, 2009
- HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activityHuman Molecular Genetics, 2007
- Interaction of N-Terminal Acetyltransferase with the Cytoplasmic Domain of -Amyloid Precursor Protein and Its Effect on A SecretionThe Journal of Biochemistry, 2005
- An Evolutionarily Conserved N-terminal Acetyltransferase Complex Associated with Neuronal DevelopmentOnline Journal of Public Health Informatics, 2003