Clinical and molecular-genetics diagnosis of microdeletion Xp11.4

2020 ◽  
pp. 35-36
Author(s):  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
Т.В. Маркова ◽  
Н.В. Шилова
Keyword(s):  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Speech Development ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Cerebellar Hypoplasia ◽  
Pontocerebellar Hypoplasia ◽  
Molecular Genetic Study ◽  
Psychomotor Delay ◽  
Study Results

Представлены клинические и молекулярно-генетические результаты обследования девочки с задержкой психомоторного, речевого и физического развития, микроцефалией, гипоплазией моста и мозжечка. Хромосомный микроматричный анализ позволил выявить делецию Хр11.4, затрагивающую ген CASK, который ассоциирован с клиническими проявлениями MICPCH-синдрома (mental retardation and microcephaly with pontine and cerebellar hypoplasia). Сlinical and molecular-genetic study results of a girl with developemental and psychomotor delay, lack of speech development, microcephaly, and pontocerebellar hypoplasia are presented. Chromosomal microarray analysis revealed a deletion of Xp11.4 affecting the CASK gene that is associated with clinical manifestations of MICPCH-syndrome.

Genomic imbalance in a patient with two balanced translocations and abnormal phenotype

2021 ◽  
pp. 40-43
Author(s):  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
А.Ф. Муртазина ◽  
Н.В. Шилова
Keyword(s):  
Clinical Symptoms ◽  
Cytogenetic Study ◽  
Molecular Genetic ◽  
Break Point ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 6 ◽  
Molecular Genetic Study ◽  
Psychomotor Delay ◽  
Balanced Translocations

Представлены клинические и молекулярно-генетические результаты обследования пациента с задержкой психомоторного развития, аномалиями фенотипа и множественными врожденными пороками систем и органов. При стандартном цитогенетическом исследовании определены две реципрокные транслокации между хромосомами 2 и 6 и хромосомами 7 и 11, подтвержденные FISH-методом. Хромосомный микроматричный анализ позволил выявить делецию 6q14.1 в точке разрыва на длинном плече хромосомы 6. Делеция включает несколько десятков генов, в том числе гены PHIP, FILIP1, MYO6, HTR1B, IMPG1, EVOLV4, TENT5A, которые вероятнее всего ассоциированы с клиническими проявлениями у пациента. The results of clinical and molecular genetic study of the patient with psychomotor delay, phenotype abnormalities and multiple congenital malformations of systems and organs are presented. A standard cytogenetic study determined a double translocation between chromosomes 2 and 6 and chromosomes 7 and 11, confirmed by the FISH method. Chromosomal microarray analysis revealed a deletion of 6q14.1 region at the break point on the long arm of chromosome 6. The deletion involves several dozen genes, including PHIP, FILIP1, MYO6, HTR1B, IMPG1, EVOLV4, TENT5A genes, which are most likely associated with clinical symptoms in the patient.

scholarly journals GENETIC ASPECTS OF PREGNANCY MISCARRIAGE

2019 ◽  
pp. 71-76
Author(s):  
K. M. Lisova ◽  
I. V. Kalinovska ◽  
O. M. Yuzko
Keyword(s):  
Pregnant Women ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Control Group ◽  
Molecular Genetic Study ◽  
Immunological Parameters ◽  
Fetoplacental Complex ◽  
Maternal Genotype ◽  
A1166c Polymorphism

Pregnancy miscarriage is a consequence of many factors. The aim of the study was to analyze the effect of miscarriage gene on embryometric, ultrasound, hormonal, immunological parameters in pregnant women, and to evaluate its prognostic value. The main group includes 31 pregnant women who had clinical signs of miscarriage in current or previous pregnancy. The control group consists of 32 healthy pregnant women whose clinical-paraclinical parameters served as a control to compare the data of the pregnancy survey of the main surveillance group. A general clinical examination and a special obstetrical examination (complaints, anamnesis, general medical examination, obstetric examination), biochemical studies (determination of hormones of the fetoplacental complex in blood serum of pregnant women), ultrasound, immunological studies, histological studies of the placenta, molecular genetic study A1166C polymorphism of the AGTR1 gene were made. In the course of the research, the genetic determinism of miscarriage was discovered. The polymorphism of the A1166C of the AGTR1 gene was considered as a prognostic marker of miscarriage in early gestational term and preeclampsia in the second half of pregnancy. A reliable marker of abortion was the maternal genotype 1166AC for the genome AGTR1. The risk of occurrence of clinical manifestations of abortion increased five times. At simultaneous influence of all prognostic factors the risk of abortion increased 6,25 times. Detection of genetic markers of pregnancy miscarriage will allow early correction of this pathology and prevent perinatal loss.

POLYMORPHISM OF GENE IL2-330Т>>G AND EXPRESSION OF INTERLEUKIN-2 IN PATIENTS WITH VENOUS THROMBOEMBOLIC COMPLICATIONS OF POLYTRAUMA

2017 ◽  
Author(s):  
А. Мироманов ◽  
В. Доржеев ◽  
Н. Мироманова ◽  
Ю. Витковский
Keyword(s):  
Molecular Genetic ◽  
Interleukin 2 ◽  
Clinical Manifestations ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Thromboembolic Complications ◽  
Inclusion Criteria ◽  
Study Results ◽  
Venous Thromboembolic ◽  
Analysis Point

Введение. Политравма отличается особой тяжестью клинических проявлений, сопровождается значительным нарушением жизненно важных функций организма, трудностью диагностики и лечения, частым развитием разнообразных осложнений, длительным периодом пребывания в стационаре и высокой инвалидизацией. Тромбоэмболические осложнения при политравме встречаются в 40–77% случаев и характеризуются скрытым клиническим течением, трудностью лечения и высокой летальностью. Цель исследования. Изучить влияние полиморфизма гена IL2-330T{>{G на экспрессию интерлейкина-2 (IL-2) у пациентов с венозными тромбоэмболическими осложнениями (ВТЭО) политравмы в Забайкальском крае. Материалы и методы. В исследование включено 114 пациентов (71,9% мужчин и 28,1% женщин) в возрасте от 20 до 40 лет с политравмой. Критерий включения в исследование: политравма с индексом по шкале ISS более 9. Первая группа — 73 пациента с неосложнённым течением политравмы, вторая группа — 41 пациент с ВТЭО политравмы. Контрольную группу составили 100 практически здоровых мужчин и женщин в возрасте от 20 до 40 лет. Материалом для молекулярно-генетического анализа служили образцы ДНК, выделенные из периферической крови. Для исследования выбрана точковая мутация IL-2 в позиции 330 (Т{>{G). Результаты. У пациентов с ВТЭО политравмы регистрировали более частое носительство генотипа -330T/T гена IL2; наличие этого генотипа сопровождалось увеличением продукции IL-2. Заключение. Идентификация генов и раскрытие их влияния на экспрессию кодируемых молекул способствует более глубокому пониманию патогенетических механизмов развития осложнений. Introduction. Polytrauma is characterized by a specifi c severity of clinical manifestations, is accompanied by a signifi cant impairment of vital body functions, the diffi culty of diagnosis and treatment, frequent development of various complications, prolonged period of hospitalization and high disability. Thromboembolic complications of polytrauma occur in 40–77% of cases and characterized by latent clinical course, diffi culties in treatment and high mortality. The aim was to study the eff ect of gene IL2-330T{>{G polymorphism on the expression of interleukin-2 (IL-2) at patients with venous thromboembolic complications (VTE) of polytrauma in Zabaykalskiy Krai. Materials and methods. The study included 114 patients (71,9% men and 28,1% women) with polytrauma aged from 20 to 40 years. Inclusion criteria: polytrauma with index according ISS scale more than 9. First group — 73 patients with uncomplicated polytrauma, second group — 41 patients with VTE of polytrauma. Control group consisted of 100 practically healthy men and women aged from 20 to 40 years. DNA samples isolated from the peripheral blood were the material for molecular genetic analysis. Point mutation of IL-2 at position 330 (T{>{G) was selected for study. Results. Genotype -330T/T of IL2 gene was registered more frequently at patients with VTE of polytrauma; the presence of this genotype was accompanied by increased production of IL-2. Conclusion. Identifi cation of genes and their eff ects on the expression of encoded molecules assists more overall understanding of pathogenetic mechanisms of complications development.

scholarly journals Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review)

2020 ◽  
Vol 7 (2) ◽  
pp. 86-93
Author(s):  
A. V. Bankole ◽  
E. A. Chernyak
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Compound Heterozygous ◽  
Red Cell ◽  
Molecular Genetic Study ◽  
Pyruvate Kinase Deficiency ◽  
Diagnostic Approaches

Red cell pyruvate kinase deficiency is the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Pyruvate kinase is the enzyme involved in the last step of glycolysis – the transfer of a phosphate group from phosphoenolpyruvate producing the enolate of pyruvate and ATP (50 % of total energy ATP of erythrocytes). ATP deficiency directly shortened red cell lifespan. Affected red blood cells are destroyed in the splenic capillaries, leading to the development of chronic hemolytic anemia. It is an autosomal recessive disease, caused by homozygous and compound heterozygous mutations in the PKLR gene. There are no exact data on the incidence of pyruvate kinase deficiency, but the estimated frequency varies from 3: 1,000,000 to 1:20,000. The clinical features of the disease and the severity are highly variable. Diagnosis of pyruvate kinase deficiency is based on the determination of pyruvate kinase activity and molecular genetic study of the PKLR gene. The variety of clinical manifestations, possible complications, as well as the inaccessibility of diagnostic methods complicate the diagnosis.

scholarly journals Widening the area of a Baikal endemic Leymus secalinus (Georgi) Tzvelev. (Poaceae) northward to the Aldan River basin (Yakutia) based on the molecular genetic study results

2020 ◽  
Vol 24 ◽  
pp. 00006
Author(s):  
Natalia Badmaeva ◽  
Dolgor Tubanova ◽  
Evgenia Bukharova
Keyword(s):  
River Basin ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Nuclear Rdna ◽  
Molecular Genetic Study ◽  
Taxonomic Relationships ◽  
Study Results

The paper presents the results of studying the taxonomic relationships of Leymus secalinus (Georgi) Tzvelev. and L. littoralis (Griseb.) Peschkova in different geographical sites based on a comparison of ITS1-5.8S-ITS2 sequences of nuclear rDNA and cpDNA matK. Molecular genetic research of these species allowed us to expand the area of L. secalinus to the Aldan River basin (Yakutia).

scholarly journals PHENOTYPIC CHARACTERISTICS IN OSTEOGENESIS IMPERFECTA PATIENTS

2019 ◽  
Vol 21 (5) ◽  
pp. 266-271
Author(s):  
Olga N. Ignatovich
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Type I ◽  
Missense Mutations ◽  
Phenotypic Characteristics ◽  
Molecular Genetic Study ◽  
Collagen Genes

Osteogenesis imperfecta (OI) is a heterogeneous hereditary disease characterized by low bone density and frequent fractures. There are presented data of molecular genetic study and examination of 45 children with a clinically established diagnosis of types I, III and IV. The aim of investigation. To study the variety of clinical manifestations in OI children with and to compare with the identified genetic mutations in the genes COL1A1 and COL1A2. Materials and methods. The data of molecular genetic research and evaluation of clinical manifestations of 45 children with diagnosis OI of types I, III and IV is presented. Results. In the study, mutations in the genes COL1A1 and COL1A2 were detected in 43 (95.6%). The most of the mutations (74,4%) were found to be localized in the gene COL1A1 (n=32), smaller (25.6%) - in the gene COL1A2 (n=11). Glycine-to-serine substitutions in the Gly-X-Y triplet are the most frequent type of mutation among missense mutations. In children with type I qualitative mutations were found to be less common than in types III and IV (representing clinically severe and moderate, respectively). Conclusion. Majority of OI patients had mutations in the collagen genes. The most frequent mutation was the missense mutation, the most often detected in children with OI type III having a severe course, leading to a qualitative violation of collagen.

scholarly journals Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia

2021 ◽  
Vol 12 ◽  
Author(s):  
Chia-Hsiang Chen ◽  
Min-Chih Cheng ◽  
Tsung-Ming Hu ◽  
Lieh-Yung Ping
Keyword(s):  
Genetic Testing ◽  
Microarray Analysis ◽  
Copy Number ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Settings ◽  
Schizophrenia Spectrum ◽  
Spectrum Disorders

Schizophrenia is a chronic, devastating mental disorder with complex genetic components. Given the advancements in the molecular genetic research of schizophrenia in recent years, there is still a lack of genetic tests that can be used in clinical settings. Chromosomal microarray analysis (CMA) has been used as first-tier genetic testing for congenital abnormalities, developmental delay, and autism spectrum disorders. This study attempted to gain some experience in applying chromosomal microarray analysis as a first-tier genetic test for patients with schizophrenia. We consecutively enrolled patients with schizophrenia spectrum disorder from a clinical setting and conducted genome-wide copy number variation (CNV) analysis using a chromosomal microarray platform. We followed the 2020 “Technical Standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” to interpret the clinical significance of CNVs detected from patients. We recruited a total of 60 patients (36 females and 24 males) into this study. We detected three pathogenic CNVs and one likely pathogenic CNV in four patients, respectively. The detection rate was 6.7% (4/60, 95% CI: 0.004–0.13), comparable with previous studies in the literature. Also, we detected thirteen CNVs classified as uncertain clinical significance in nine patients. Detecting these CNVs can help establish the molecular genetic diagnosis of schizophrenia patients and provide helpful information for genetic counseling and clinical management. Also, it can increase our understanding of the pathogenesis of schizophrenia. Hence, we suggest CMA is a valuable genetic tool and considered first-tier genetic testing for schizophrenia spectrum disorders in clinical settings.

scholarly journals Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

2021 ◽  
Vol 11 (2) ◽  
pp. 61-79
Author(s):  
S. V. Mikhailova ◽  
E. V. Saifullina ◽  
P. V. Baranova ◽  
V. P. Vorontsova ◽  
D.  I. Gribov ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Symptom Relief ◽  
Clinical Manifestations ◽  
Glutaric Aciduria Type ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Disease Manifestation ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other conditions and the immediate initiation of pathogenetic therapy.Materials and methods. Clinical manifestations, neuroimaging characteristics of the disease were studied in 46 patients with diagnosed glutaric aciduria type 1 confirmed by biochemical and molecular genetic methods. Methods: gas chromatography with mass spectrometry, tandem mass spectrometry, Sanger sequencing, chromosomal microarray analysis of the exon level.Results and discussion. A retrospective analysis of anamnestic and clinical data was carried out, and the nature and age of disease manifestation, provoking factors, a spectrum of clinical manifestations and neuroimaging data were assessed.Conclusion. How initiated treatment prevents progression of neurological symptom relief and patient adaptation. With the help of the goal, it is necessary to inform pediatricians, neurologists and neuroradiologists about this feature of the course of glutaric aciduria type 1 in order to increase the clinical alertness of this disease.

scholarly journals THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

2018 ◽  
Vol 17 (2) ◽  
pp. 157-165
Author(s):  
Nataliya A. Sdvigova ◽  
Elena N. Basargina ◽  
Dmitry V. Ryabtsev ◽  
Kirill V. Savostyanov ◽  
Alexander A. Pushkov ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Systolic Dysfunction ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Hereditary Diseases ◽  
Molecular Genetic Study ◽  
Disease Etiology ◽  
Myocardial Diseases ◽  
Clinical Cases

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic complications). Considering the variety of genetic disorders associated with the development of noncompaction cardiomyopathy, genetic verification of the diagnosis is important for determining the prognosis and conducting genetic counselling of families with cases of the disease.Description of the Clinical Case. The article presents two clinical observations of a severe course of non-compaction cardiomyopathy with remodeling of the heart cavities according to the dilated phenotype. In order to clarify the disease etiology, a molecular genetic study was conducted using the method of direct automatic sequencing with the analysis of targeted regions of 404 genes which mutations are described in hereditary diseases of the heart and blood vessels. After verifying the mutation (in the ACTC1 and MYBPC3 genes), we performed a search for the detected nucleotide substitution in the venous blood samples of parents and in one case — in the fetal DNA sample. The mode of inheritance has been determined; the probability of recurrence of the disease in siblings in subsequent pregnancies has been estimated.Conclusion. The description of clinical cases shows the importance of genetic verification of the diagnosis in patients with non-compaction cardiomyopathy for determining the disease prognosis and developing an algorithm for monitoring relatives of a proband.

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