scholarly journals Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

2009 ◽  
Vol 160 (4) ◽  
pp. 711-717 ◽  
Author(s):  
Eduardo Fernández-Rebollo ◽  
Olga Pérez ◽  
Cristina Martinez-Bouzas ◽  
Maria Carmen Cotarelo-Pérez ◽  
Intza Garin ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Underlying Mechanism ◽  
Charge Syndrome ◽  
Genetic Studies ◽  
The Family ◽  
Proper Diagnosis ◽  
Dependent Probe

ContextThe phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established.ObjectiveTo genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome.DesignClinical case report.MethodsClinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of GNAS, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent in situ hybridization analysis.ResultsThe genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation.ConclusionsThis is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

scholarly journals The role of genetic research with family design in the study of affective disorders

2019 ◽  
pp. 106-108
Author(s):  
E. D. Kasyanov ◽  
G. E. Maso ◽  
A. O. Kibitov
Keyword(s):  
Affective Disorders ◽  
Bipolar Affective Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Important Criterion ◽  
Genetic Studies ◽  
The Family ◽  
Polygenic Diseases ◽  
Potential Biomarkers

Affective disorders (recurrent depressive disorder and bipolar affective disorder) are multifactorial and polygenic diseases, which suggests the involvement of multiple neurobiological mechanisms. The phenotype of affective disorders is a heterogeneous group of clinically similar psychopathological symptoms, which also makes it difficult to detect potential biomarkers and new therapeutic targets. To study families at high risk of developing affective disorders using both clinical and molecular genetic approaches can help to study the neurobiological basis of depressive conditions, as well as to identify endophenotypes of affective disorders. The most important criterion for an endophenotype is its heritability, which can be proved only within the framework of the family design of the study. Comprehensive clinical and molecular genetic studies based on family design have the best prospects.

scholarly journals Red flour beetle (Tribolium castaneum): From population genetics to functional genomics

2018 ◽  
pp. 1043-1046 ◽  
Author(s):  
Harshit Kumar ◽  
Manjit Panigrahi ◽  
Supriya Chhotaray ◽  
V. Bhanuprakash ◽  
Rahul Shandilya ◽  
...  
Keyword(s):  
Functional Genomics ◽  
Tribolium Castaneum ◽  
Insertional Mutagenesis ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Immune Priming ◽  
Systemic Rnai ◽  
Basic Facts

Tribolium castaneum is a small and low maintenance beetle that has emerged as a most suitable insect model for studying developmental biology and functional genetic analysis. Diverse population genetic studies have been conducted using Tribolium as the principal model to establish basic facts and principles of inbreeding experiments and response to the selection and other quantitative genetics fundamentals. The advanced molecular genetic studies presently focused on the use of Tribolium as a typical invertebrate model for higher diploid eukaryotes. After a whole genome sequencing of Tribolium, many areas of functional genomics were unraveled, which enabled the use of it in many technical approaches of genomics. The present text reviews the use of Tribolium in techniques such as RNAi, transgenic studies, immune priming, immunohistochemistry, in situ hybridization, gene sequencing for characterization of microRNAs, and gene editing using engineered endonuclease. In contrast to Drosophila, the T. castaneum holds a robust systemic RNAi response, which makes it an excellent model for comparative functional genetic studies. Keywords: functional genomics, hox gene, insertional mutagenesis, RNAi, Tribolium.

scholarly journals DWARF WITH SLENDER LEAF1 encoding a histone deacetylase plays diverse roles in rice development

2019 ◽  
Author(s):  
Fumika Clara Kubo ◽  
Yukiko Yasui ◽  
Yoshihiro Ohmori ◽  
Toshihiro Kumamaru ◽  
Wakana Tanaka ◽  
...  
Keyword(s):  
Cell Division ◽  
Histone Deacetylases ◽  
Biological Activities ◽  
Molecular Genetic ◽  
Histone Deacetylation ◽  
Vascular Bundles ◽  
Genetic Studies ◽  
Rice Mutant ◽  
Morphological Defects

Abstract In plants, reversible histone acetylation and deacetylation play a crucial role in various biological activities, including development and the response to environmental stress. Histone deacetylation, which is generally associated with gene silencing, is catalyzed by multiple histone deacetylases (HDACs). Our understanding of HDAC function in plant development has accumulated from molecular genetic studies in Arabidopsis thaliana. By contrast, how HDACs contribute to the development of rice (Oryza sativa) is poorly understood and no rice mutants of HDAC have been reported. Here we have characterized a new rice mutant showing semi-dwarfism, which we named dwarf with slender leaf1 (dsl1). The mutant showed pleiotropic defects in both vegetative and reproductive development; for example, dsl1 produced short and narrow leaves, accompanied with a reduction in the number and size of vascular bundles. The semi-dwarf phenotype was due to suppression of the elongation of some culm (stem) internodes. Interestingly, despite this suppression of the upper internodes, the elongation and generation of lower internodes were slightly enhanced. Inflorescence and spikelet development were also affected by the dsl1 mutation. Some of the observed morphological defects were related to a reduction in cell numbers, in addition to reduced cell division in leaf primordia revealed by in situ hybridization analysis, suggesting the possibility that DSL1 is involved in cell division control. Gene cloning revealed that DSL1 encodes an HDAC belonging to the Reduced potassium dependence3/Histone Deacetylase1 (RPD3/HDA1) family. Collectively, our study shows that the HDAC DSL1 plays diverse and important roles in development in rice.

scholarly journals Slackia faecicanis sp. nov., isolated from canine faeces

2005 ◽  
Vol 55 (3) ◽  
pp. 1243-1246 ◽  
Author(s):  
Paul A. Lawson ◽  
Hazel L. Greetham ◽  
Glenn R. Gibson ◽  
Catriona Giffard ◽  
Enevold Falsen ◽  
...  
Keyword(s):  
Novel Species ◽  
Molecular Genetic ◽  
Gene Sequencing ◽  
16S Rrna Gene Sequencing ◽  
Rrna Gene ◽  
Strictly Anaerobic ◽  
Anaerobic Conditions ◽  
Genetic Studies ◽  
The Family ◽  
Rrna Gene Sequencing

Morphological, biochemical and molecular genetic studies were carried out on an unknown non-spore-forming, Gram-positive, rod-shaped bacterium that was isolated from dog faeces. The bacterium grew under strictly anaerobic conditions, was asaccharolytic, and possessed a relatively high G+C content of 61 mol%. Phylogenetic analysis based on comparative 16S rRNA gene sequencing showed that the unidentified bacterium was a member of the family Coriobacteriaceae and represents a hitherto unknown subline within the genus Slackia. Based on the presented findings, a novel species, Slackia faecicanis sp. nov., is described. The type strain of Slackia faecicanis is 5WC12T (=CCUG 48399T=CIP 108281T).

When Genetics Gets under Your Skin

1996 ◽  
Vol 1 (2) ◽  
pp. 97-100 ◽  
Author(s):  
Sherri J. Bale
Keyword(s):  
Risk Factors ◽  
Skin Diseases ◽  
Association Studies ◽  
Molecular Genetic ◽  
Underlying Mechanism ◽  
Statistical Techniques ◽  
Disease Genes ◽  
Genetic Studies ◽  
Genetic Techniques ◽  
Skin Biology

Background: Only recently has the advent of the use of modern statistical and molecular genetic techniques begun to increase our understanding of the study of dermatology and skin biology. Objective: This paper will briefly outline several statistical techniques that are used in genetic studies of skin disease by reviewing these techniques, the types of questions that can be answered using them, and issues that should be considered in evaluating and interpreting papers that use them. Methods: A discussion of association studies, segregation analyses, and linkage analyses with respect to skin diseases is presented. Results: Association studies can be used to identify both genetic and environmental risk factors for disease. Segregation analyses are used to identify the underlying mechanism for disease aggregation in families. Linkage analysis is used to map disease genes to chromosomes. Conclusion: Dermatologists should be familiar with the types of genetic questions that can be answered with each technique, and should remain aware of the limitations in interpretation.

scholarly journals Unlocking pathology archives for molecular genetic studies: a reliable method to generate probes for chromogenic and fluorescent in situ hybridization

2006 ◽  
Vol 86 (4) ◽  
pp. 398-408 ◽  
Author(s):  
Maryou B K Lambros ◽  
Pete T Simpson ◽  
Chris Jones ◽  
Rachael Natrajan ◽  
Charlotte Westbury ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Reliable Method ◽  
Molecular Genetic ◽  
Genetic Studies

Phylogenetic relationships in the genus Closterium

2021 ◽  
pp. 151-154
Author(s):  
Nikita A. Martynenko ◽  
Evgeniy S. Gusev
Keyword(s):  
Phylogenetic Relationships ◽  
18S Rdna ◽  
Molecular Genetic ◽  
Taxonomic Diversity ◽  
Morphological Characters ◽  
Monophyletic Clade ◽  
Genetic Studies ◽  
Species Complexes ◽  
The Family ◽  
General Tree

Desmids are a large polyphyletic group of streptophyte algae, numbering about 4000 species. Traditionally, the taxonomy of desmids is based on morphological characters. However, the latest molecular genetic studies of the group conflict with the established taxonomy and indicate the polyphyletic position of some genera of this group of algae. The genus Closterium Nitzsch ex Ralfs, like the family Closteriaceae Bessey, forms a monophyletic clade on the general tree of Desmidiales, recovered on the data of both 18S rDNA and rbcL cpDNA. In our analysis of phylogenetic relationships within the genus Closterium, the existing strains formed 14 clades (species complexes). Within some complexes, some strains don’t differ phenotypically, but diverge on the phylogenetic tree, which indicates a hidden taxonomic diversity within the genus.

scholarly journals Identification of a Novel Non-Stop Mutation in PDE6C Gene in an Iranian Family With Con-Rod Dystrophy

2020 ◽  
Author(s):  
Shahram Nasiri ◽  
Farah Talebi ◽  
Javad Mohammadi Asl ◽  
Farideh Ghanbari Mardasi
Keyword(s):  
Stop Codon ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Eye Disorders ◽  
Stop Mutation ◽  
The Family ◽  
Iranian Family ◽  
Generation Sequencing ◽  
Nonstop Mutation

Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients. Molecular genetic analysis of the 22 genes was performed in a family with Cone-rod dystrophy. Bioinformatics was applied for Next Generation Sequencing, and the variants were confirmed by Sanger sequencing. In this study, the nonstop mutation in the PDE6C gene (a normal stop codon is 859th codon of PDE6C located in exon 22 TAA (Stop) --> CAA (Gln) = Stop859Q) leads to a termination-site change and run-on into the 3' untranslated region (UTR) that predicts an extended protein which was found in the family. This mutation has not been described in patients with the CORD phenotype. Also, this is the first study indicating that a nonstop mutation in the homozygous state in PDE6C is responsible for the congenital recessive CORD phenotype.

scholarly journals Anchoring the CerEla1.0 Genome Assembly to Red Deer (Cervus elaphus) and Cattle (Bos taurus) Chromosomes and Specification of Evolutionary Chromosome Rearrangements in Cervidae

Animals ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 2614
Author(s):  
Miluse Vozdova ◽  
Svatava Kubickova ◽  
Halina Cernohorska ◽  
Jan Fröhlich ◽  
Jiri Rubes
Keyword(s):  
Cervus Elaphus ◽  
Genome Assembly ◽  
Red Deer ◽  
Bos Taurus ◽  
Bovine Genome ◽  
Genetic Studies ◽  
Economic Significance ◽  
The Family ◽  
Genome Assemblies

The family Cervidae groups a range of species with an increasing economic significance. Their karyotypes share 35 evolutionary conserved chromosomal segments with cattle (Bos taurus). Recent publication of the annotated red deer (Cervus elaphus) whole genome assembly (CerEla1.0) has provided a basis for advanced genetic studies. In this study, we compared the red deer CerEla1.0 and bovine ARS-UCD1.2 genome assembly and used fluorescence in situ hybridization with bovine BAC probes to verify the homology between bovine and deer chromosomes, determined the centromere-telomere orientation of the CerEla1.0 C-scaffolds and specified positions of the cervid evolutionary chromosome breakpoints. In addition, we revealed several incongruences between the current deer and bovine genome assemblies that were shown to be caused by errors in the CerEla1.0 assembly. Finally, we verified the centromere-to-centromere orientation of evolutionarily fused chromosomes in seven additional deer species, giving a support to previous studies on their chromosome evolution.

Sign in / Sign up

Export Citation Format

Share Document