scholarly journals Variant of the FLNC gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction

2021 ◽  
Vol 26 (10) ◽  
pp. 4748
Author(s):  
O. V. Kulikova ◽  
R. P. Myasnikov ◽  
A. N. Meshkov ◽  
M. M. Kudryavtseva ◽  
E. A. Mershina ◽  
...  
Keyword(s):  
Case Report ◽  
Nucleotide Sequence ◽  
Scientific Literature ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Left Ventricular ◽  
Gene Variants ◽  
Molecular Genetic Testing ◽  
Gene Nucleotide Sequence ◽  
I Gene

Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

scholarly journals Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

2021 ◽  
Vol 14 (4) ◽  
pp. 52-59
Author(s):  
L. A. Katargina ◽  
V. V. Kadyshev ◽  
E. V. Denisova ◽  
E. A. Geraskina ◽  
A. V. Marakhonov ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Direct Sequencing ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Interdisciplinary Approach ◽  
Ophthalmological Examination ◽  
Photographic Recording ◽  
Familial Exudative Vitreoretinopathy ◽  
National Medical

Familial exudative vitreoretinopathy (FEVR)is a rare genetically heterogeneous disease with multiple types of inheritance (autosomal dominant, autosomal recessive, X-linked) and widely varying clinical features. Up to 40 % of cases of FEVR are associated with mutations of the FZD4 gene.Purpose: to investigate the clinical manifestations of FEVR in children with nucleotide sequence alterations in the FZD4 gene. Material and methods. The Helmholtz National Medical ResearchCenter of Eye Diseases and the ResearchCentre for MedicalGenetics conducted a joint in-depth ophthalmological examination of 18 patients aged from 3 weeks to 17 years with a diagnosis of FEVR, which included a detailed ophthalmoscopy under drug mydriasis, ultrasound and electrophysiological examination, photographic recording of fundus changes using RetCam and Fundus Foto. Molecular genetic examination was carried out by direct sequencing according to Sanger. Results. Nucleotide sequence alterations in the FZD4 gene were detected in 3 patients(16.7 %)from two unrelated families. In one family, a 12-year-old girl wasfound to display the firstsymptoms of ophthalmic pathology (reduced vision, strabismus) at the age of 3.5 years. In another family, the clinical manifestations of FZD4 gene mutations were observed in two children during the first year of life (at the age of 5 and 11 months).Conclusions. The clinical picture of 3 patients with detected changes in the nucleotide sequence of the FZD4 gene is characterized by early manifestation and bilateral asymmetric ophthalmoscopic damage. The results of the study indicate the need for a timely diagnosis of FEVR in young children, recommend an interdisciplinary approach to the study of the disease, which should contribute to a better understanding of pathogenesis, and the development of an effective diagnostic, treatment and rehabilitation algorithm.

scholarly journals Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

2020 ◽  
Vol 10 (3) ◽  
pp. 105
Author(s):  
Megan Boothe ◽  
Robert Morris ◽  
Nathaniel Robin
Keyword(s):  
Molecular Genetic ◽  
Clinical Manifestations ◽  
High Rate ◽  
Stickler Syndrome ◽  
Molecular Genetic Testing ◽  
Ocular Complications ◽  
Increased Risk ◽  
Auditory Systems ◽  
Detection And Diagnosis ◽  
Early Detection And Diagnosis

Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved. SS is genotypically and phenotypically heterogenous, which can make recognizing and correctly diagnosing individuals difficult. Molecular genetic testing should be considered in all individuals with suspected SS, as diagnosis not only assists in treatment and management of the patient but may also help identify other at-risk family members. Here we review common clinical manifestation of SS and genetic tests frequently ordered as part of the SS evaluation.

scholarly journals New Variant of MYH7 Gene Nucleotide Sequence in Familial Non-Compaction Cardiomyopathy with Benign Course

2020 ◽  
Vol 16 (3) ◽  
pp. 383-391
Author(s):  
R. P. Myasnikov ◽  
O. V. Kulikova ◽  
A. N. Meshkov ◽  
A. V. Kiseleva ◽  
A. O. Shumarina ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Gene Nucleotide Sequence ◽  
New Variant ◽  
Benign Course ◽  
I Gene

scholarly journals Non-Syndromic 46,XY Disorders of Sex Development

2018 ◽  
Vol 18 (1) ◽  
pp. 35-41
Author(s):  
J Gecz ◽  
J Breza ◽  
P Banovcin
Keyword(s):  
Genetic Testing ◽  
Slovak Republic ◽  
Molecular Genetic ◽  
Disorders Of Sex Development ◽  
Gene Variants ◽  
Molecular Genetic Testing ◽  
The Past ◽  
Sex Development

Abstract Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.

scholarly journals Cardiomyopathy in children – clinical, genetic and morphological aspects

2020 ◽  
Vol 28 (1) ◽  
pp. 99-110
Author(s):  
Olga P. Saryeva ◽  
Ludmila V. Kulida ◽  
Elena V. Protsenko ◽  
Maria V. Malysheva
Keyword(s):  
Myocardial Dysfunction ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Research Priorities ◽  
Ventricular Myocardium ◽  
Left Ventricular ◽  
Point Of View ◽  
Future Research ◽  
Left Ventricular Myocardium ◽  
Clinical Genetic

Cardiomyopathy is one of serious and complex problems of pediatric cardiology. Many of them are the cause of sudden death and are familial in character. Disappointing statistics increases the relevance of the problem of cardiomyopathy and dictates the need for in-depth study of the etiology and pathogenesis, structural bases and experience in clinical and morphological diagnosis of this pathology in children. Of particular importance from a practical point of view is the development of prognostic factors in primary and secondary cardiomyopathies. This literature review provides information on the etiology, pathogenesis, clinical manifestations, pathomorphological changes and outcomes of such cardiomyopathies as hypertrophic, dilated cardiomyopathies, non-compact left ventricular myocardium and histiocytoid cardiomyopathy. Peculiarities of restructure of the myocardium in the analyzed cardiomyopathies and their relationship with systolic and diastolic myocardial dysfunction are shown. Molecular genetic aspects of diagnosis of etiology and pathogenesis of this pathology in children are given in detail. The necessity of systematic pathomorphological study of the heart with full analysis of contractile, conducting microcirculatory and neuroautonomic structures in considered variants of cardiovascular pathology is emphasized. These data will help outline future research priorities for this group of diseases to provide earlier diagnosis, improve clinical outcomes and the quality of life of these children and their families.

scholarly journals Lyme Borreliosis as Cause of Myocarditis: A Case Report and a Review of the Literature

2021 ◽  
Vol 07 (12) ◽  
Author(s):  
Yousra Serroukh ◽  
Keyword(s):  
Case Report ◽  
Lyme Disease ◽  
Lyme Borreliosis ◽  
Clinical Manifestations ◽  
Left Ventricular ◽  
Review Of The Literature ◽  
Conduction Disorders ◽  
Lyme Carditis ◽  
The Subject ◽  
Cardiac Manifestation

lyme borreliosis (LB) is the most common tick-born disease in the Northern Hemisphere. During early disseminated Lyme disease, cardiac manifestation can occur. including acute conduction disorders, atrioventricular block, acute myopericarditis or left ventricular dysfunction and rarely cardiomegaly or fatal pericarditis. We report a case of a patient with isolated Lyme myocarditis manifested by acute heart failure with atrial fibrillation and review of the literature on the subject. The interested of this case report is to show the need to acquire the reflex to think about a lyme carditis when patients in endemic areas come to attention with cardiovasculair symtoms, even in the absence of others concurerenr clinical manifestations of early lyme disease.

scholarly journals Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination – A Case Report

2020 ◽  
Vol 5 (3) ◽  
pp. 1-6
Author(s):  
Priya Prasher ◽  
Katherine Redmond ◽  
Hillarey Stone ◽  
James Bailes ◽  
Edward Nehus ◽  
...  
Keyword(s):  
Case Report ◽  
Promoter Region ◽  
Molecular Genetic ◽  
Missense Variant ◽  
Compound Heterozygous ◽  
Molecular Genetic Testing ◽  
Coding Region ◽  
Polycystic Kidney ◽  
Homozygous State ◽  
Pathogenic Variants

We present the case of an infant referred to our NICU born at 39 weeks’ gestation with persistent hypoglycemia with elevated insulin levels (HI) requiring diazoxide to maintain normoglycemia. Additionally, polycystic kidney disease (PKD) was detected by ultrasound. Molecular genetic testing revealed pathogenic variants in the <i>PMM2</i>gene, i.e., a variant in the promoter region and a missense variant in the coding region. The precoding variant was recently described in 11 European families with similar phenotypes, either in a homozygous state or as compound heterozygous with a pathogenic coding variant. In neonates with HI associated with PKD, this rare recessive disorder should be considered.

scholarly journals POLR3A-related hypomyelinating leukodystrophy: case report and literature review

2020 ◽  
Vol 11 (4) ◽  
pp. 48-54
Author(s):  
A. F. Murtazina ◽  
T. V. Markova ◽  
A. A. Orlova ◽  
O. P. Ryzhkova ◽  
O. A. Shchagina ◽  
...  
Keyword(s):  
Case Report ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Permanent Teeth ◽  
Diagnostic Process ◽  
Compound Heterozygous ◽  
Compound Heterozygous Variants ◽  
First Year Of Life

Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A gene. We reported the first clinical case of a Russian patient with HL type 7.Proband is a 7‑year‑old patient with HL type 7. The diagnosis was confirmed by genealogy, neurological examination, brain magnetic resonance imaging and molecular genetic testing. Two compound‑heterozygous variants in the POLR3A gene were revealed in the patient. Each variant was described earlier in patients with variable clinical manifestations of neurodegenerative diseases. The peculiarities of clinical manifestations in our patient were the manifestation of the disease in the first year of life, the predominance of cerebellar symptoms, a movement limitation of the jaw, leading to worsening of dysarthria, a delay in the formation of permanent teeth and short stature. The course of the disease was moderate that could be explained by different effect of the variants in the POLR3A gene.POLR3A‑related disease is a group of clinically heterogeneous disorders manifesting from early childhood to adulthood and characterized by isolated spastic ataxia or ataxia combined with oligodontia and hypogonadotropic hypogonadism, isolated or complicated spastic paraplegia, as well as a combination of ataxia with extrapyramidal symptoms. Our case report demonstrates the complexity of diagnostic process in the absence of a peculiar clinical picture and specific changes in brain imaging.

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