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 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.

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

2020 ◽  
pp. 47-53
Author(s):  
Т.В. Кожанова ◽  
С.С. Жилина ◽  
Т.И. Мещерякова ◽  
Е.Г. Лукьянова ◽  
К.В. Осипова ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Epileptic Encephalopathy ◽  
Spectrum Disorder ◽  
Development Delay ◽  
Spectrum Disorders ◽  
Craniofacial Features ◽  
Ngs Data ◽  
Facial Dysmorphia

Синдром Хельсмуртел-Ван дер Аа (OMIM #615873) - аутосомно-доминантная умственная отсталость, тип 28, которая характеризуется наличием черепно-лицевых дисморфий, нарушением поведения и расстройствами аутистического спектра. Развитие редкого синдрома связано с мутациями в гене ADNP. В статье представляется клиническое наблюдение пациентки с задержкой психомоторного и речевого развития, специфическими лицевыми дисморфиями, нарушением поведения и выявленной мутацией в гене ADNP. При проведении таргетного экзомного секвенирования выявлен ранее неописанный вариант нуклеотидной последовательности в гене ADNP (p.Ala1017fs). Мутации в гене ADNP в гетерозиготном состоянии описаны у пациентов с синдромом Хельсмуртел-Ван дер Аа (Helsmoortel-van der Aa syndrome; MIM:#615873). Мутации в гене ADNP могут быть генетической причиной расстройств аутистического спектра у 0,17% пациентов. Целесообразно при интерпретации данных NGS у пациентов с эпилептической энцефалопатией, расстройством аутистического спектра и характерным фенотипом учитывать, что ген ADNP относится к ключевым генам эмбрионального развития нервной системы. Helsmoortel-van der Aa syndrome (OMIM # 615873) is an autosomal dominant mental retardation 28 type, which is characterized by dysmorphic craniofacial features, impaired behavior and autism spectrum disorders. The development of a rare syndrome is associated with mutations in the ADNP gene. The clinical case is presented in patient with a development delay (psychomotor and speech), characteristic facial dysmorphia, impaired behavior and a detected mutation in the ADNP gene. Previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs) was detected by targeted exome sequencing. Heterozygous mutations in the ADNP gene have been described in patients with Helsmoortel-van der Aa syndrome (MIM: # 615873). Mutations in the ADNP gene can be a genetic cause of autism spectrum disorders in 0,17% of patients. It is advisable to take into account that the ADNP gene is one of the key genes for embryonic neurodevelopment when interpreting NGS data in patients with epileptic encephalopathy, autism spectrum disorder and characteristic facial dysmorphia.

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.

scholarly journals Psychiatric Symptoms in Children With Gross Motor Problems

2012 ◽  
Vol 29 (2) ◽  
pp. 161-178 ◽  
Author(s):  
Claudia Emck ◽  
Ruud J. Bosscher ◽  
Piet C.W. van Wieringen ◽  
Theo Doreleijers ◽  
Peter J. Beek
Keyword(s):  
Psychiatric Symptoms ◽  
Psychosocial Problems ◽  
Stereotyped Behavior ◽  
Autism Spectrum ◽  
Gross Motor ◽  
School Population ◽  
Motor Problems ◽  
Spectrum Disorders ◽  
Attention Deficit Hyperactivity Disorders ◽  
Psychiatric Problems

Children with psychiatric disorders often demonstrate gross motor problems. This study investigates if the reverse also holds true by assessing psychiatric symptoms present in children with gross motor problems. Emotional, behavioral, and autism spectrum disorders (ASD), as well as psychosocial problems, were assessed in a sample of 40 children with gross motor problems from an elementary school population (aged 7 through 12 years). Sixty-five percent of the sample met the criteria for psychiatric classification. Anxiety disorders were found most often (45%), followed by ASD (25%) and attention deficit hyperactivity disorders (15%). Internalizing (51%) and social problems (41%) were prominent, as was “stereotyped behavior” (92%) and “resistance to changes” (92%). Self-perceived incompetence was restricted to domains that were indeed impaired (i.e., the athletic and social domains). The results suggest that children with gross motor problems are strongly at risk for psychiatric problems including anxiety, internalization, and ASD.

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 Information Site as the Way of the Communicative Skills Development of Children with Autism Spectrum Disorder

2021 ◽  
pp. 90-97
Author(s):  
Oksana Vasilievna Stepkova ◽  
◽  
Natalia Vasilievna Kushnareva ◽  
Keyword(s):  
Autism Spectrum Disorders ◽  
Communication Skills ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Speech Development ◽  
Primary School Children ◽  
Skills Development ◽  
Communicative Skills ◽  
Primary Schoolchildren ◽  
Spectrum Disorders

Introduction. The article is devoted to the problem of the communicative skills development of primary school children with autism spectrum disorders using the information site. The purpose of the article is to highlight the possibilities of using the information site by teachers in the process of communication skills development in children with autism spectrum disorders. Research methodology and methods. The research is based on the methodology of a differentiated approach taking into account the age and individual capabilities of the schoolchildren, as well as the severity of the disorder. Various classifications of autism spectrum disorders have been analyzed, and special attention has been paid to the consideration of the peculiarities of speech development, namely, its communicative function. The stages of the research carried out in order to identify the level of communication skills development of children with autism spectrum disorders and the search for ways of corrective work are reflected. Research results. The results of experimental work with the use of an information site aimed to communication skills development of primary schoolchildren with autism spectrum disorders have been presented. Conclusion. In conclusion we should underline that the communicative skills are one of the main manifestations of autism spectrum disorders and teachers can use information technology (for example, an information site) to develop these skills.

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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