scholarly journals Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2

2001 ◽  
Vol 38 (2) ◽  
pp. 106-109 ◽  
Author(s):  
C. A STRATAKIS
Keyword(s):  
Clinical Symptoms ◽  
Chromosome 2 ◽  
Genetic Studies ◽  
Uniparental Isodisomy

scholarly journals Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

2021 ◽  
Vol 22 (15) ◽  
pp. 7842
Author(s):  
Susanne Kohl ◽  
Britta Baumann ◽  
Francesca Dassie ◽  
Anja K. Mayer ◽  
Maria Solaki ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Molecular Genetic ◽  
Retinal Disease ◽  
Underlying Mechanism ◽  
Recurrence Risk ◽  
Molecular Genetic Analysis ◽  
Recessive Mutation ◽  
Chromosome 2 ◽  
Inherited Retinal Disease ◽  
Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

scholarly journals Clinics and genetic background of hereditary gingival fibromatosis

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Karolina Strzelec ◽  
Agata Dziedzic ◽  
Katarzyna Łazarz-Bartyzel ◽  
Aleksander M. Grabiec ◽  
Ewa Gutmajster ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Rare Condition ◽  
Enrichment Score ◽  
Chromosome 2 ◽  
Chromosome 11 ◽  
Genetic Studies ◽  
Pathogenic Variants ◽  
Gingival Fibromatosis ◽  
Encoding Genes ◽  
Clinical Overview

Abstract Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autosomal-dominant and autosomal-recessive forms of HGF are described. The aim of this review is a clinical overview, as well as a summary and discussion of the involvement of candidate chromosomal regions, pathogenic variants of genes, and candidate genes in the pathogenesis of HGF. The loci related to non-syndromic HGF have been identified on chromosome 2 (GINGF, GINGF3), chromosome 5 (GINGF2), chromosome 11 (GINGF4), and 4 (GINGF5). Of these loci, pathogenic variants of the SOS-1 and REST genes inducing HGF have been identified in the GINGF and the GINGF5, respectively. Furthermore, among the top 10 clusters of genes ranked by enrichment score, ATP binding, and fibronectin encoding genes were proposed as related to HGF. Conclusion The analysis of clinical reports as well as translational genetic studies published since the late’90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular  mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.

The Potential Role of 5-HT1D Receptors in the Pathophysiology and Treatment of Obsessive-Compulsive Disorder

CNS Spectrums ◽  
1998 ◽  
Vol 3 (8) ◽  
pp. 46-49 ◽  
Author(s):  
Liat Stern ◽  
Joseph Zohar ◽  
Thalma Hendler ◽  
Iulian Ianco ◽  
Yehuda Sasson
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Clinical Symptoms ◽  
Epidemiological Studies ◽  
Obsessive Compulsive ◽  
Genetic Studies ◽  
Compulsive Disorder ◽  
Everyday Activities ◽  
Research Fields ◽  
Patterns Of Behavior

Obsessive-compulsive disorder (OCD) is a psychiatric disorder in which the patient suffers from recurrent intrusive ideas, impulses, thoughts (obsessions), and/or patterns of behavior (compulsions) that are ego-alien and produce anxiety if resisted. The ego-dystonic nature of OCD is one of the hallmarks of this disorder. OCD can be a disabling condition because the obsessions and compulsions are time-consuming and interfere with patients' everyday activities and their relationships with friends and family. In severe cases, OCD conflicts even with the simplest tasks of daily living.Research interest in OCD has been growing steadily in the past decade. A search on MEDLINE reveals an over 300% increase in citations on OCD from 1986 to 1998. These range across the spectrum of research fields, from genetic studies, brain imaging, and neurobiological research examining the underlying pathogenesis of OCD to epidemiological studies evaluating the course of clinical symptoms, comorbidities, and outcomes. Each area represents an important piece in the complex jigsaw puzzle of OCD.

scholarly journals What Have Slow Progressors Taught Us About T1D—Mind the Gap!

2019 ◽  
Vol 19 (10) ◽  
Author(s):  
Kathleen M. Gillespie ◽  
Anna E. Long
Keyword(s):  
At Risk ◽  
Clinical Symptoms ◽  
Adult Population ◽  
Islet Autoimmunity ◽  
Islet Autoantibody ◽  
Progression Rate ◽  
Adult Onset ◽  
Genetic Studies ◽  
Slow Progressors

Abstract Purpose of Review Progression rate from islet autoimmunity to clinical diabetes is unpredictable. In this review, we focus on an intriguing group of slow progressors who have high-risk islet autoantibody profiles but some remain diabetes free for decades. Recent Findings Birth cohort studies show that islet autoimmunity presents early in life and approximately 70% of individuals with multiple islet autoantibodies develop clinical symptoms of diabetes within 10 years. Some “at risk” individuals however progress very slowly. Recent genetic studies confirm that approximately half of type 1 diabetes (T1D) is diagnosed in adulthood. This creates a conundrum; slow progressors cannot account for the number of cases diagnosed in the adult population. Summary There is a large “gap” in our understanding of the pathogenesis of adult onset T1D and a need for longitudinal studies to determine whether there are “at risk” adults in the general population; some of whom are rapid and some slow adult progressors.

scholarly journals Prionic diseases

2013 ◽  
Vol 71 (9B) ◽  
pp. 731-737 ◽  
Author(s):  
Abelardo Q-C Araujo
Keyword(s):  
Prion Protein ◽  
Clinical Symptoms ◽  
Prion Diseases ◽  
Brain Biopsy ◽  
Gene Encoding ◽  
Genetic Studies ◽  
Familial Predisposition ◽  
Jakob Disease ◽  
In Vivo Diagnosis

Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD) and its variants, Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI)] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

SOMATIC CONVERSION (PARAMUTATION) AT THE SULFUREA LOCUS OF LYCOPERSICON ESCULENTUM MILL. III. STUDIES WITH TRISOMICS

1969 ◽  
Vol 11 (2) ◽  
pp. 346-358 ◽  
Author(s):  
Rudolf Hagemann
Keyword(s):  
Lycopersicon Esculentum ◽  
Genetic Instability ◽  
Chromosome 2 ◽  
Wild Type Allele ◽  
Wild Type ◽  
Genetic Studies ◽  
Vegetative Cells ◽  
Type Allele ◽  
Primary Trisomics ◽  
Lycopersicon Esculentum Mill

Genetic studies carried out since 1958, have revealed at the sulfurea (sulf) locus of Lycopersicon esculentum the occurrence of a particular type of genetic instability: somatic conversion (paramutation). In vegetative cells of sulf+sulf heterozygotes the wild type allele sulf+ is heritably altered under the influence of the mutant sulf allele which is present in the same nucleus.By crossing sulf homozygotes and seven primary trisomics of the tomato (triplo-2, -5, -7, -8, -9, -10, -12) as well as a tertiary trisomic it was proven that the sulf locus is on chromosome 2, the nucleolus chromosome of the tomato.The effects of dosage are shown by the two different heterozygous trisomics which differ with regard to somatic conversion. In sulf+sulf sulf plants somatic conversion takes place very frequently; 60% of the plants (35) are variegated; that is, two conversion-active sulf alleles are very frequently able to convert one sensitive sulf+ allele. However, in sulf+sulf+sulf plants conversion has so far not been found; all plants (52) are entirely green; that is, one conversion-active sulf allele acting against two conversion-sensitive sulf+ alleles is not able to induce somatic conversion.

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

2021 ◽  
Vol 48 (3) ◽  
pp. 2093-2104
Author(s):  
Alejandro Horga ◽  
Andreea Manole ◽  
Alice L. Mitchell ◽  
Enrico Bugiardini ◽  
Iain P. Hargreaves ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Chromosome 2 ◽  
Uniparental Isodisomy

scholarly journals Hypertrophic Cardiomyopathy and Arrhythmias as Phenotype Spectrum of Emery Dreifuss Muscular Dystrophy: First Case Report in Bahrain

2021 ◽  
Vol 33 (4) ◽  
pp. 24-28
Author(s):  
Mary Lynch ◽  
Vinayak Vadgaonkar ◽  
Rajesh Jayakumar Jayakumar ◽  
Cristina Skrypnyk
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Clinical Symptoms ◽  
Limb Girdle Muscular Dystrophy ◽  
Inherited Disorders ◽  
Genetic Studies ◽  
Early Presentation ◽  
Phenotypic Spectrum ◽  
First Case ◽  
Slow Progression

Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive wasting and weakness of the skeletal muscles. The clinical spectrum ranges from early presentation with severe clinical features in childhood to onset in adulthood with less severe clinical symptoms and slow progression. This frequently raises difficulties in diagnosis. The predominant features may be cardiac, and this may lead to a complex diagnosis. Emery Driefuss Muscular dystrophy (EDMD) is a rare form of limb girdle muscular dystrophy. The prevalence is less than 1:100,000 individuals. The condition may be associated with significant muscular cardiac abnormalities which is responsible for mortality in these patients. The authors describe a case of hypertrophic cardiomyopathy in which limb girdle muscular dystrophy was suspected and subsequently confirmed by genetic studies as part of the phenotypic spectrum of Xlinked EDMD. This is the first diagnosed case of EDMD in Bahrain.

The serotonin-2A receptor polymorphism and clinical symptoms in mood disorders, schizophrenia and alcohol dependence in Japan

2003 ◽  
Vol 15 (3) ◽  
pp. 129-132 ◽  
Author(s):  
Hayato Terayama ◽  
Takahiro Takimoto ◽  
Isao Fukunishi ◽  
Masahiro Itoh ◽  
Kazuhiko Iwahashi
Keyword(s):  
Alcohol Dependence ◽  
Mood Disorders ◽  
Serotonin Receptor ◽  
Clinical Symptoms ◽  
The Novel ◽  
Genetic Studies ◽  
Serotonin 2A Receptor ◽  
The Past ◽  
Polymerase Chain ◽  
Serotonin 2A

In the past, there have been many epidemiological and genetic studies of mood disorders, schizophrenia, and alcohol dependence, and in this study, the human serotonin 2A receptor (5-HTR2A) polymorphism was examined in 80 patients with mood disorders, 50 patients with schizophrenia and 41 patients with alcohol dependence. 5-HTR is related to affectivity, regulation, and pharmacologic effects of antidepressant, anti-anxiety and antipsychotic medications. The polymorphism in 5-HTR2A (102T/C, −1438 A/G) was identified by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP). The results suggest that 5-HTR2A (102T/C, −1438G/A) polymorphism might not be associated with susceptibility to schizophrenia or mood disorders, and it might not be a risk factor contributing to alcohol dependency. We found that the 102T/C polymorphism was in linkage disequilibrium with the −1438G/A polymorphism in psychosis (mood disorder, schizophrenia, and alcohol dependence) and in health controls. Further studies are needed to determine whether or not the novel serotonin receptor (5-HTR) polymorphism reflects the pathogenesis of schizophrenia, mood disorders, and alcohol dependence.

scholarly journals The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Katayoun Heshmatzad ◽  
Nejat Mahdieh ◽  
Ali Rabbani ◽  
Abdolah Didban ◽  
Bahareh Rabbani
Keyword(s):  
In Silico ◽  
Clinical Symptoms ◽  
Genetic Disorder ◽  
Pcr Amplification ◽  
In Silico Analysis ◽  
Genetic Studies ◽  
Novel Variants ◽  
Comprehensive Search ◽  
Glucocorticoid Deficiency ◽  
Pathogenic Analysis

Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. A comprehensive search was conducted to find the reported variants of MC2R and MRAP genes. In silico pathogenic analysis was performed for the reported variants. PCR amplification and sequencing were performed for three patients. Structural analysis, modeling, and interactome analysis were applied to characterize novel MC2R variants and their proteins. About 80% of MC2R-related cases showed the clinical symptoms which were diagnosed at <2 years old. 107 patients had MC2R mutations (85 homozygotes, 21 compound heterozygotes, and 1 simple heterozygote). 59 variants were found in the MC2R gene. Four mutations were responsible for half of patients. 39 homozygous patients had MRAP mutations; 14 variants were determined in the MRAP gene. Nine proteins were predicted by STRING to associate with the studied proteins. Two novel MC2R variants, c.128T > G (p.Leu43Arg) and c.251T > A (p.Ile84Asn), were found in two patients at the age of above and below 2 years, respectively. Mutations in MC2R and MRAP genes are the main cause of FGD. Genetic studies and in silico analysis will help to confirm the diagnosis.

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