Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

scholarly journals Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Maria Francisca Coutinho ◽  
Marisa Encarnação ◽  
Francisco Laranjeira ◽  
Lúcia Lacerda ◽  
Maria João Prata ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Genetic Disorders ◽  
Causative Mutation ◽  
Lysosomal Storage ◽  
Allelic Dropout ◽  
Type Iii ◽  
Alpha Beta ◽  
Mucolipidosis Type

AbstractWhile being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the

A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia

2020 ◽  
Author(s):  
Bülent Kara ◽  
Sedat Gül ◽  
Ayfer Sakarya Güneş ◽  
Serap Mülayim ◽  
Gözde Yeşil
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Axonal Neuropathy ◽  
Gene Mutations ◽  
Autosomal Recessive Inheritance ◽  
Muscle Stiffness ◽  
Adolescent Female ◽  
Recessive Inheritance ◽  
Exome Analysis

Abstract HINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. We described an 18-year-old female patient who presented to the clinic with gait instability and muscle stiffness. A homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same variant. The patient was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary axonal neuropathies as this can help the diagnosis prior to genetic testing.

scholarly journals Genetic testing—whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes

2021 ◽  
Author(s):  
Madej Malgorzata ◽  
Sąsiadek Maria ◽  
Witt Michał
Keyword(s):  
Genetic Testing ◽  
Medical Information ◽  
Legal Framework ◽  
Genetic Profile ◽  
Free Access ◽  
Negative Consequences ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Patient Protection ◽  
Medical Referral

AbstractDirect-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individual genetic profile increasing the area of personal freedom, but also posing the risk of false (positive and negative) or misinterpreted results along with health and psychological negative consequences. The paper discusses medical and non-medical applications of DTC, exploring also the legal framework implemented by European states and organizations. These legal acts strive to control the developing DTC market through such basic principles as patient protection, informed consent, medical information confidentiality, and the rights to know and to refuse knowledge about one’s genetic predispositions.

Genetic Disorders in the Fetus from Diagnosis to Treatment

2020 ◽  
Author(s):  
Tayebeh Rabaninia ◽  
Nooshin Amjadi
Keyword(s):  
Mental Illness ◽  
Heart Disease ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Disease ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Medical Knowledge ◽  
Gene Mutations ◽  
Prevention Of Disability

Background: Today there are many diseases that genetics contributes to these, including diabetes, hypertension, cancer, heart disease, various types of cancers and even mental illness, and by the advancement of medical knowledge The number of genetic diseases is increasing now. most people think about genetic diseases as inherited diseases, which are mostly caused by gene mutations and other genetically inherited factors. Most of the genetic disorders currently do not have 100% treatment, and the only way is to preventing the prevalence of them before marriage.   Methods: Eligible articles were identified by search of databases including NCBI, PubMed, ISI Web of Knowledge and Google scholar up to July 2017.   Results: In the field of prevention of disability and genetic disorders, many members who are at risk of genetic disease should have genetic counseling to get useful information about it. Without genetic counseling, genetic testing is meaningless, as people do not go to the laboratory without a doctor's visit; Genetic counselors won’t be able to stop people from getting married, but they provide solutions to prevent them from possible disorders.   Conclusions: This study provides information on genetic diseases and prevents them in newborns and suggests new solutions for the treatment of these diseases.

Experiences of individuals receiving “Not Parent Expected” (NPE) results through direct-to-consumer genetic testing

2021 ◽  
Vol 132 ◽  
pp. S289
Author(s):  
Julia Becker ◽  
Janey Youngblom ◽  
Brianne Kirkpatrick ◽  
Liane Abrams
Keyword(s):  
Genetic Testing ◽  
Direct To Consumer

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families

2021 ◽  
pp. bjophthalmol-2020-318204
Author(s):  
Zohra Chibani ◽  
Imen Zone Abid ◽  
Peter Söderkvist ◽  
Jamel Feki ◽  
Mounira Hmani Aifa
Keyword(s):  
Autosomal Recessive ◽  
Corneal Transplantation ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Corneal Dystrophy ◽  
Solute Carrier Family ◽  
Transporter Protein ◽  
Bicarbonate Transporter ◽  
Corneal Clouding ◽  
Solute Carrier

BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).MethodsTo identify SLC4A11 gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.ResultsA novel deletion SLC4A11 mutation (p. Leu479del; c.1434_1436del) is responsible for CHED in both analysed families. This non-frameshift mutation was found in a homozygous state in affected members and heterozygous in non-affected members. In silico analysis largely support the pathogenicity of this alteration that may leads to stromal oedema by disrupting the osmolarity balance. Being localised to a region of alpha-helical secondary structure, Leu479 deletion may induce protein-compromising structural rearrangements.ConclusionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype–phenotype correlations.

scholarly journals An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Masahiro Inoue ◽  
Shota Arichi ◽  
Tsuyoshi Hachiya ◽  
Anna Ohtera ◽  
Seok-Won Kim ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Translational Research ◽  
Drug Target ◽  
Target Genes ◽  
Healthy Individuals ◽  
Alcohol Sensitivity ◽  
Direct To Consumer ◽  
Disease States ◽  
Multiple Phenotypes ◽  
Related Phenotype

Abstract Objective In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals. Results A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Association Study (PheWAS) was performed to find association between pre-selected drug target genes and all the phenotypes. Association was found between GRIN2B and multiple phenotypes related to depression, which is considered reliable based on previous reports on the biological function of GRIN2B protein and its relationship with depression. These results suggest possibility of using SNPs and phenotype information collected from healthy individuals as a translational research tool for drug discovery to find relationship between a gene and a disease if it is possible to extract individuals in pre-disease states by properly designed questionnaire.

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