NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Abstract:

:We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identified a novel missense variant (c.128 A > C; p.Tyr43Ser) in NAA10 (X chromosome) as the cause of the family's disorder. Sanger sequencing confirmed that the mutation arose de novo in the carrier mother. NAA10 encodes the catalytic subunit of the major human N-terminal acetylation complex NatA. In vitro assays for the p.Tyr43Ser mutant enzyme showed a significant decrease in catalytic activity and reduced stability compared to wild-type Naa10 protein. NAA10 has previously been associated with Ogden syndrome, Lenz microphthalmia syndrome and non-syndromic developmental delay. Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. Importantly, we highlight the need for cardiac assessment in males and females with NAA10 variants as both patients and carriers can have long QT.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Casey JP,Støve SI,McGorrian C,Galvin J,Blenski M,Dunne A,Ennis S,Brett F,King MD,Arnesen T,Lynch SA

doi

10.1038/srep16022

subject

Has Abstract

pub_date

2015-11-02 00:00:00

pages

16022

issn

2045-2322

pii

srep16022

journal_volume

5

pub_type

杂志文章
  • Human Sialic acid O-acetyl esterase (SIAE) - mediated changes in sensitivity to etoposide in a medulloblastoma cell line.

    abstract::Medulloblastoma (MB), the most common malignant paediatric brain tumour occurs in the cerebellum. Advances in molecular genomics have led to the identification of defined subgroups which are associated with distinct clinical prognoses. Despite this classification, standard therapies for all subgroups often leave child...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-44950-5

    authors: Mather RL,Loveson KF,Fillmore HL

    更新日期:2019-06-13 00:00:00

  • Raw transcriptomics data to gene specific SSRs: a validated free bioinformatics workflow for biologists.

    abstract::Recent advances in next-generation sequencing technologies have paved the path for a considerable amount of sequencing data at a relatively low cost. This has revolutionized the genomics and transcriptomics studies. However, different challenges are now created in handling such data with available bioinformatics platf...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-75270-8

    authors: Naranpanawa DNU,Chandrasekara CHWMRB,Bandaranayake PCG,Bandaranayake AU

    更新日期:2020-10-26 00:00:00

  • Modelling survival: exposure pattern, species sensitivity and uncertainty.

    abstract::The General Unified Threshold model for Survival (GUTS) integrates previously published toxicokinetic-toxicodynamic models and estimates survival with explicitly defined assumptions. Importantly, GUTS accounts for time-variable exposure to the stressor. We performed three studies to test the ability of GUTS to predict...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep29178

    authors: Ashauer R,Albert C,Augustine S,Cedergreen N,Charles S,Ducrot V,Focks A,Gabsi F,Gergs A,Goussen B,Jager T,Kramer NI,Nyman AM,Poulsen V,Reichenberger S,Schäfer RB,Van den Brink PJ,Veltman K,Vogel S,Zimmer EI,Preuss

    更新日期:2016-07-06 00:00:00

  • Vertically-aligned BCN nanotube arrays with superior performance in electrochemical capacitors.

    abstract::Electrochemical capacitors (EC) have received tremendous interest due to their high potential to satisfy the urgent demand in many advanced applications. The development of new electrode materials is considered to be the most promising approach to enhance the EC performance substantially. Herein, we present a high-cap...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep06083

    authors: Zhou J,Li N,Gao F,Zhao Y,Hou L,Xu Z

    更新日期:2014-08-15 00:00:00

  • Reconstruction of the cropland cover changes in eastern China between the 10th century and 13th century using historical documents.

    abstract::To evaluate and improve datasets of anthropogenic land cover change used in local and global climate models, great efforts were made to reconstruct historical land use, including the LandCover 6k project which dedicated to reconstructing human land use over the past 10,000 years. In this study, we utilized historical ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-31807-6

    authors: Li M,He F,Li S,Yang F

    更新日期:2018-09-10 00:00:00

  • Colonization with the enteric protozoa Blastocystis is associated with increased diversity of human gut bacterial microbiota.

    abstract::Alterations in the composition of commensal bacterial populations, a phenomenon known as dysbiosis, are linked to multiple gastrointestinal disorders, such as inflammatory bowel disease and irritable bowel syndrome, or to infections by diverse enteric pathogens. Blastocystis is one of the most common single-celled euk...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep25255

    authors: Audebert C,Even G,Cian A,Blastocystis Investigation Group.,Loywick A,Merlin S,Viscogliosi E,Chabé M

    更新日期:2016-05-05 00:00:00

  • Long-range wetting transparency on top of layered metal-dielectric substrates.

    abstract::It has been recently shown that scores of physical and chemical phenomena (including spontaneous emission, scattering and Förster energy transfer) can be controlled by nonlocal dielectric environments provided by metamaterials with hyperbolic dispersion and simpler metal/dielectric structures. At this time, we have re...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep27834

    authors: Noginov MA,Barnakov YA,Liberman V,Prayakarao S,Bonner CE,Narimanov EE

    更新日期:2016-06-21 00:00:00

  • Simple oral mucosal epithelial transplantation in a rabbit model.

    abstract::This study investigated a rabbit model of autologous simple oral mucosal epithelium transplantation (SOMET) for limbal stem cell deficiency (LSCD). LSCD was created in the SOMET group and the Control group. In the SOMET group, oral mucosa harvested from the buccal region was treated with dispase, cut into small pieces...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-54571-7

    authors: Inamochi A,Tomioka A,Kitamoto K,Miyai T,Usui T,Aihara M,Yamagami S

    更新日期:2019-12-02 00:00:00

  • Topological phase transition without gap closing.

    abstract::Topological phase transition is accompanied with a change of topological numbers. According to the bulk-edge correspondence, the gap closing and the breakdown of the adiabaticity are necessary at the phase transition point to make the topological number ill-defined. However, the gap closing is not always needed. In th...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep02790

    authors: Ezawa M,Tanaka Y,Nagaosa N

    更新日期:2013-09-27 00:00:00

  • A record of changes in the Gran Sasso groundwater before, during and after the 2016 Amatrice earthquake, central Italy.

    abstract::We performed continuous recordings (May 2015 - January 2017) of hydraulic pressure and electrical conductivity of groundwater in the 190 m-long horizontal S13 borehole drilled next to the deep underground laboratories of Gran Sasso (LNGS-INFN), located in the core of the Gran Sasso carbonate aquifer (central Italy) at...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-34444-1

    authors: De Luca G,Di Carlo G,Tallini M

    更新日期:2018-10-29 00:00:00

  • Method for diagnosing neoplastic lesions by quantitative fluorescence value.

    abstract::Fluorescence visualization devices (FVs) are useful for detecting malignant lesions because of their simple and noninvasive application. However, their quantitative application has been challenging. This study aimed to quantitatively and statistically evaluate the change in fluorescence intensity (FI) during the progr...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-44287-z

    authors: Kosugi A,Kasahara M,Yang L,Nakamura-Takahashi A,Shibahara T,Mori T

    更新日期:2019-05-24 00:00:00

  • Past and future potential range changes in one of the last large vertebrates of the Australian continent, the emu Dromaius novaehollandiae.

    abstract::In Australia, significant shifts in species distribution have occurred with the loss of megafauna, changes in indigenous Australian fire regime and land-use changes with European settlement. The emu, one of the last megafaunal species in Australia, has likely undergone substantial distribution changes, particularly ne...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-79551-0

    authors: Ryeland J,Derham TT,Spencer RJ

    更新日期:2021-01-13 00:00:00

  • An integrated statistical model for enhanced murine cardiomyocyte differentiation via optimized engagement of 3D extracellular matrices.

    abstract::The extracellular matrix (ECM) impacts stem cell differentiation, but identifying formulations supportive of differentiation is challenging in 3D models. Prior efforts involving combinatorial ECM arrays seemed intuitively advantageous. We propose an alternative that suggests reducing sample size and technological burd...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep18705

    authors: Jung JP,Hu D,Domian IJ,Ogle BM

    更新日期:2015-12-21 00:00:00

  • The interaction between the proliferating macroalga Asparagopsis taxiformis and the coral Astroides calycularis induces changes in microbiome and metabolomic fingerprints.

    abstract::Mediterranean Sea ecosystems are considered as hotspots of biological introductions, exposed to possible negative effects of non-indigenous species. In such temperate marine ecosystems, macroalgae may be dominant, with a great percentage of their diversity represented by introduced species. Their interaction with temp...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep42625

    authors: Greff S,Aires T,Serrão EA,Engelen AH,Thomas OP,Pérez T

    更新日期:2017-02-20 00:00:00

  • The interaction between farming/rural environment and TLR2, TLR4, TLR6 and CD14 genetic polymorphisms in relation to early- and late-onset asthma.

    abstract::Asthma phenotypes based on age-of-onset may be differently influenced by the interaction between variation in toll-like receptor (TLR)/CD14 genes and environmental microbes. We examined the associations between single-nucleotide polymorphisms (SNP) in the TLR/CD14 genes and asthma, and their interaction with proxies o...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep43681

    authors: Lau MY,Dharmage SC,Burgess JA,Win AK,Lowe AJ,Lodge C,Perret J,Hui J,Thomas PS,Morrison S,Giles GG,Hopper J,Abramson MJ,Walters EH,Matheson MC

    更新日期:2017-03-06 00:00:00

  • Phenotypic and Transcriptomic Analysis of Two Pinellia ternata Varieties T2 line and T2Plus line.

    abstract::Pinellia (Pinellia ternata (Thunb.) Breit.), as important medicinal plant, has been used to treat various ailments for a long time. The sixteen ploid plant (2n = 16 * 13 = 208) Pinellia T2Plus line was obtained from an octoploid (2n = 8 * 13 = 104) T2 line by chromosome-doubling technique. Compared with T2 line, the c...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-61512-2

    authors: Lu J,Liu JN,Sarsaiya S,Duns GJ,Han J,Jin L,Chen J

    更新日期:2020-03-12 00:00:00

  • Prevalence, functional characteristics, and clinical significance of right ventricular involvement in patients with hypertrophic cardiomyopathy.

    abstract::We sought to investigate the prevalence, functional characteristics, and clinical significance of right ventricular (RV) involvement in patients with hypertrophic cardiomyopathy (HCM). A total of 256 patients with HCM who underwent both cardiac magnetic resonance (CMR) imaging and transthoracic echocardiography within...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-78945-4

    authors: Seo J,Hong YJ,Kim YJ,Lkhagvasuren P,Cho I,Shim CY,Ha JW,Hong GR

    更新日期:2020-12-14 00:00:00

  • Comparative transcriptional profiling of tildipirosin-resistant and sensitive Haemophilus parasuis.

    abstract::Numerous studies have been conducted to examine the molecular mechanism of Haemophilus parasuis resistance to antibiotic, but rarely to tildipirosin. In the current study, transcriptional profiling was applied to analyse the variation in gene expression of JS0135 and tildipirosin-resistant JS32. The growth curves show...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-07972-5

    authors: Lei Z,Fu S,Yang B,Liu Q,Ahmed S,Xu L,Xiong J,Cao J,Qiu Y

    更新日期:2017-08-08 00:00:00

  • Author Correction: One-plasmid double-expression His-tag system for rapid production and easy purification of MS2 phage-like particles.

    abstract::A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. ...

    journal_title:Scientific reports

    pub_type: 已发布勘误

    doi:10.1038/s41598-019-39693-2

    authors: Mikel P,Vasickova P,Kralik P

    更新日期:2019-04-17 00:00:00

  • Watershed geomorphology modifies the sensitivity of aquatic ecosystem metabolism to temperature.

    abstract::The regulation of aquatic carbon cycles by temperature is a significant uncertainty in our understanding of how watersheds will respond to climate change. Aquatic ecosystems transport substantial quantities of carbon to the atmosphere and ocean, yet we have limited understanding of how temperature modifies aquatic eco...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-53703-3

    authors: Jankowski KJ,Schindler DE

    更新日期:2019-11-26 00:00:00

  • In vitro cytotoxicity and anticancer effects of citral nanostructured lipid carrier on MDA MBA-231 human breast cancer cells.

    abstract::Very recently, we postulated that the incorporation of citral into nanostructured lipid carrier (NLC-Citral) improves solubility and delivery of the citral without toxic effects in vivo. Thus, the objective of this study is to evaluate anti-cancer effects of NLC-Citral in MDA MB-231 cells in vitro through the Annexin ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-38214-x

    authors: Nordin N,Yeap SK,Rahman HS,Zamberi NR,Abu N,Mohamad NE,How CW,Masarudin MJ,Abdullah R,Alitheen NB

    更新日期:2019-02-07 00:00:00

  • Nutritional status modifies pregnane X receptor regulated transcriptome.

    abstract::Pregnane X receptor (PXR) regulates glucose and lipid metabolism, but little is known of the nutritional regulation of PXR function. We investigated the genome wide effects of the nutritional status on the PXR mediated gene regulation in the liver. Mice were treated with a PXR ligand pregnenolone 16α-carbonitrile (PCN...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-53101-9

    authors: Hassani-Nezhad-Gashti F,Kummu O,Karpale M,Rysä J,Hakkola J

    更新日期:2019-11-13 00:00:00

  • Caveolin-2 deficiency induces a rapid anti-tumor immune response prior to regression of implanted murine lung carcinoma tumors.

    abstract::Immunosuppression is critical for tumor growth and metastasis as well as obstacle to effective immunotherapy. Here, we demonstrate that host deficiency in caveolin-2, a member of caveolin protein family, increases M1-polarized tumor-associated macrophage (TAM) and CD8 T cell infiltration into subcutaneously implanted ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-55368-4

    authors: Liu Y,Qi X,Li G,Sowa G

    更新日期:2019-12-12 00:00:00

  • Serum creatinine/cystatin C ratio as a case-finding tool for low handgrip strength in Chinese middle-aged and older adults.

    abstract::Measuring handgrip strength is the initial step to diagnose sarcopenia. To investigate whether the serum creatinine (Cr)/cystatin C (CysC) ratio could serve as a case-finding tool for low handgrip strength, we conducted a diagnostic accuracy study. Adults (aged ≥ 40 years) with normal renal function were recruited. Tr...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-71028-4

    authors: Tan L,Li R,Hu X,Zhu Y,Bao T,Zuo Y,Yang M

    更新日期:2020-08-20 00:00:00

  • The ability to utilise ammonia as nitrogen source is cell type specific and intricately linked to GDH, AMPK and mTORC1.

    abstract::Ammonia can be utilised as an alternative nitrogen source to glutamine to support cell proliferation. However, the underlying molecular mechanisms and whether all cells have this ability is not fully understood. We find that eleven cancer and non-cancerous cell lines have opposite abilities to tolerate and utilise amm...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-37509-3

    authors: Lie S,Wang T,Forbes B,Proud CG,Petersen J

    更新日期:2019-02-06 00:00:00

  • Need for speed: Short lifespan selects for increased learning ability.

    abstract::It is generally assumed that an investment into cognitive abilities and their associated cost is particularly beneficial for long-lived species, as a prolonged lifespan allows to recoup the initial investment. However, ephemeral organisms possess astonishing cognitive abilities too. Invertebrates, for example, are cap...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-51652-5

    authors: Liedtke J,Fromhage L

    更新日期:2019-10-23 00:00:00

  • A single design strategy for dual sensitive pH probe with a suitable range to map pH in living cells.

    abstract::Due to the lack of a proper imaging approach, a veracious pH map of normal and abnormal cell is still rare. In this work, we presented a rhodamine-salicylaldehyde combination (Rh-SA2) as a novel pH probe, which has dual sensitive units for both acidic and basic environment. This dual sensitive probe acts like a chamel...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep15540

    authors: Yu KK,Hou JT,Li K,Yao Q,Yang J,Wu MY,Xie YM,Yu XQ

    更新日期:2015-10-21 00:00:00

  • Melatonin modulates red-ox state and decreases viability of rat pancreatic stellate cells.

    abstract::In this work we have studied the effects of pharmacological concentrations of melatonin (1 µM-1 mM) on pancreatic stellate cells (PSC). Cell viability was analyzed by AlamarBlue test. Production of reactive oxygen species (ROS) was monitored following CM-H2DCFDA and MitoSOX Red-derived fluorescence. Total protein carb...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-63433-6

    authors: Gonzalez A,Estaras M,Martinez-Morcillo S,Martinez R,García A,Estévez M,Santofimia-Castaño P,Tapia JA,Moreno N,Pérez-López M,Míguez MP,Blanco-Fernández G,Lopez-Guerra D,Fernandez-Bermejo M,Mateos JM,Vara D,Roncero V,Sali

    更新日期:2020-04-14 00:00:00

  • Microbe-set enrichment analysis facilitates functional interpretation of microbiome profiling data.

    abstract::The commensal microbiome is known to influence a variety of host phenotypes. Microbiome profiling followed by differential abundance analysis has been established as an effective approach to study the mechanisms of host-microbiome interactions. However, it is challenging to interpret the collective functions of the re...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-78511-y

    authors: Kou Y,Xu X,Zhu Z,Dai L,Tan Y

    更新日期:2020-12-08 00:00:00

  • Cancer cells grown in 3D under fluid flow exhibit an aggressive phenotype and reduced responsiveness to the anti-cancer treatment doxorubicin.

    abstract::3D laboratory models of cancer are designed to recapitulate the biochemical and biophysical characteristics of the tumour microenvironment and aim to enable studies of cancer, and new therapeutic modalities, in a physiologically-relevant manner. We have developed an in vitro 3D model comprising a central high-density ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-68999-9

    authors: Azimi T,Loizidou M,Dwek MV

    更新日期:2020-07-21 00:00:00