scholarly journals Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1

2019 ◽  
Vol 14 (1) ◽  
pp. 49-53
Author(s):  
I. V. Sharkova ◽  
I. A. Akimova ◽  
O. V. Khlebnikova ◽  
E. L. Dadali
Keyword(s):  
High Performance ◽  
Standard Procedure ◽  
Clinical Manifestations ◽  
Speech Development ◽  
Compound Heterozygous ◽  
Genetic Characteristics ◽  
History Of ◽  
New Generation Sequencing ◽  
New Generation ◽  
Generation Sequencing

Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound heterozygous and heterozygous mutations in the gene ITPR1.We described a case history of a child of 1 year and 8 months whose parents were complaining of severe delay in psychomotor and speech development, and a violation of the functions of the visual analyzer. Neurological and ophthalmologic examinations were performed according to a standard procedure. Search for mutations was carried out using high-performance exome sequencing on NextSeg 500 (Illumina, USA) with an average coverage of at least 70–100x.Clinical and genetic characteristics of the patient with Gillespie syndrome due to the newly identified heterozygous missense mutation are presented. Mutation 1865T˃S in the 18 exon of the ITPR1 gene was found during the new generation sequencing of the exome. In the future, these data can be used to predict the characteristics of clinical manifestations and the severity of Gillespie syndrome, when a similar nucleotide substitution will be found in other patients.

scholarly journals Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

2020 ◽  
Vol 12 (1) ◽  
pp. 59-66
Author(s):  
T. V. Kozhanova ◽  
S. S. Zhilina ◽  
T. I. Mescheryakova ◽  
E. G. Luk`yanova ◽  
K. V. Osipova ◽  
...  
Keyword(s):  
Stereotyped Behavior ◽  
Autism Spectrum ◽  
Epileptic Encephalopathy ◽  
Speech Development ◽  
New Generation Sequencing ◽  
Key Genes ◽  
Spectrum Disorders ◽  
New Generation ◽  
Generation Sequencing ◽  
Facial Dysmorphia

Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare clinical case of a delay in psychomotor and speech development, specific facial dysmorphia, impaired behavior, and a detected mutation in the ADNP gene. When conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs). Mutations in the ADNP gene in a heterozygous state were described for patients with Helsmoortel-van der Aa syndrome (OMIM: # 615873). Mutations in the ADNP gene are the genetic cause of ASD in 0.17% of cases. When interpreting the data of new generation sequencing (NGS) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take into account that the ADNP gene is one of the key genes responsible for embryonic neurodevelopment.

scholarly journals Multi-Technique Investigation of Grave Robes from 17th and 18th Century Crypts Using Combined Spectroscopic, Spectrometric Techniques, and New-Generation Sequencing

Materials ◽  
2021 ◽  
Vol 14 (13) ◽  
pp. 3535
Author(s):  
Magdalena Śliwka-Kaszyńska ◽  
Marek Ślebioda ◽  
Anna Brillowska-Dąbrowska ◽  
Martyna Mroczyńska ◽  
Jakub Karczewski ◽  
...  
Keyword(s):  
High Performance ◽  
18Th Century ◽  
Acid Extraction ◽  
Sem Images ◽  
X Ray ◽  
Detection And Identification ◽  
New Generation Sequencing ◽  
Ft Ir ◽  
New Generation ◽  
Generation Sequencing

The textile fragments of the funeral clothes found in the 17th and 18th century crypts were subjected to spectroscopic, spectrometric, and microbial investigation. The next-generation sequencing enabled DNA identification of microorganisms at the genus and in five cases to the species level. The soft hydrofluoric acid extraction method was optimized to isolate different classes of dyes from samples that had direct contact with human remains. High-performance liquid chromatography coupled with diode matrix and tandem mass spectrometry detectors with electrospray ionization (HPLC-DAD-ESI-MS/MS) enabled the detection and identification of 34 colourants that are present in historical textiles. Some of them are thus far unknown and uncommon dyes. Indigo, madder, cochineal, turmeric, tannin-producing plant, and young fustic were identified as sources of dyes in textiles. Scanning electron microscopy with energy-dispersive X-ray detector (SEM-EDS) and Fourier transform infrared spectroscopy (FT-IR) were used to identify and characterize fibres and mordants in funeral gowns. Of the 23 textile samples tested, 19 were silk while the remaining four were recognized as wool. The presence of iron, aluminium, sodium, and calcium suggests that they were used as mordants. Traces of copper, silica, and magnesium might originate from the contaminants. The large amount of silver indicated the presence of metal wire in one of the dyed silk textiles. SEM images showed that textile fibres were highly degraded.

RESEARCH OF THE MICROBIOM OF THE GASTROINTESTINAL TRACT OF THE ABERDIN-ANGUS BREED CATTLE

2021 ◽  
Author(s):  
А.Т. ДАУГАЛИЕВА ◽  
С.Т. ДАУГАЛИЕВА ◽  
Б.С. АРЫНГАЗИЕВ ◽  
Т.А. ЛАВРЕНТЬЕВА
Keyword(s):  
Genetic Identification ◽  
Intestinal Microbiome ◽  
Taxonomic Structure ◽  
Sequencing Technology ◽  
Microbial Composition ◽  
Angus Cattle ◽  
Taxonomic Profile ◽  
New Generation Sequencing ◽  
New Generation ◽  
Generation Sequencing

Целью исследования было определение таксономической структуры микробиома кишечника крупного рогатого скота породы Абердин-Ангус с помощью технологии секвенирования нового поколения. 16S метагеномный анализ, позволил определить микробный состав содержимого кишечника, минуя стадию культивирования на питательных средах. Проведена генетическая идентификация и получен таксономический профиль всех присутствующих бактерий, в том числе и некультивируемых форм. The aim of the study was to determine the taxonomic structure of the intestinal microbiome of Aberdeen Angus cattle using a new generation sequencing technology. 16S metagenomic analysis made it possible to determine the microbial composition of the intestinal contents bypassing the stage of cultivation on nutrient media. Genetic identification was carried out and a taxonomic profile of all bacteria present, including non-cultivated forms, was obtained. Key words: microbiome, cattle, Aberdeen Angus, next generation sequencing.

Understanding and exploiting the genetics of plant root traits

2021 ◽  
pp. 395-466
Author(s):  
Roberto Tuberosa ◽  
◽  
Elisabetta Frascaroli ◽  
Marco Maccaferri ◽  
Silvio Salvi ◽  
...  
Keyword(s):  
Environmental Impact ◽  
Plant Root ◽  
Root Traits ◽  
The Past ◽  
Vast Literature ◽  
New Generation Sequencing ◽  
New Generation ◽  
Constrained Conditions ◽  
Major Emphasis ◽  
Generation Sequencing

This chapter illustrates how genomics and other -omics approaches coupled with new-generation sequencing (NGS) platforms have been deployed to dissect the genetic make-up of RSA traits and better understand their functions, particularly under environmentally constrained conditions that commonly occur in most farmed soils. The major emphasis is devoted to studies during the past two decades in crops and only occasional reference is provided to the vast literature from RSA studies conducted in Arabidopsis and other model plants. The chapter also provides examples on how, in some cases, this knowledge is already benefiting farmers and how it can help in reducing the environmental impact of agriculture worldwide.

The Importance of New Generation Sequencing (NGS) HLA Typing in Renal Transplantation—Preliminary Report

2018 ◽  
Vol 50 (6) ◽  
pp. 1605-1615 ◽  
Author(s):  
M. Kotowski ◽  
A. Bogacz ◽  
J. Bartkowiak-Wieczorek ◽  
A. Bukowska ◽  
N. Surowiec ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Preliminary Report ◽  
Hla Typing ◽  
New Generation Sequencing ◽  
New Generation ◽  
Generation Sequencing

scholarly journals Complete Genome Sequence of Human Coronavirus OC43 Isolated from Mexico

2016 ◽  
Vol 4 (6) ◽  
Author(s):  
B. T. Taboada ◽  
P. Isa ◽  
M. A. Espinoza ◽  
F. E. Aponte ◽  
M. A. Arias-Ortiz ◽  
...  
Keyword(s):  
Genome Sequence ◽  
Complete Genome Sequence ◽  
Complete Genome ◽  
Genome Sequences ◽  
Human Coronavirus ◽  
Sequence Identity ◽  
New Generation Sequencing ◽  
New Generation ◽  
Metagenomic Approach ◽  
Generation Sequencing

We report the complete genome sequence of the first Mexican human coronavirus (HCoV) OC43, obtained by new-generation sequencing and a metagenomic approach, isolated from a child hospitalized with pneumonia. The genome is closely related to the other OC43 genome sequences available, ranging from 99.8% to 98.2% nucleotide sequence identity.

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