4.6 Article

Genetic Insights from Consanguineous Cardiomyopathy Families

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Josefin Johansson et al.

Summary: This study presents the natural course of recessively inherited lethal form of human fetal cardiomyopathy caused by loss of Nexilin function.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Article Cardiac & Cardiovascular Systems

Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments

Nicoletta Orphanou et al.

Summary: Dilated cardiomyopathy (DCM) is a complex disease with various genetic and non-genetic causes, leading to a range of clinical presentations. Recent advancements in understanding the genetic basis of DCM have provided insights into genotype-directed therapies, paving the way for more efficient diagnosis and prevention strategies.

HEART FAILURE REVIEWS (2022)

Article Cardiac & Cardiovascular Systems

What Causes Hypertrophic Cardiomyopathy?

Bradley A. Maron et al.

Summary: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease that is not solely caused by genetic factors, but also influenced by acquired disease determinants and genetic context. This new perspective will impact clinical practice and the psychosocial well-being of patients.

AMERICAN JOURNAL OF CARDIOLOGY (2022)

Article Genetics & Heredity

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel Peter Sayer Osborn et al.

Summary: This study identified genetic causes of recessive familial cardiomyopathy using exome sequencing. The results suggest that homozygous MYL3 loss-of-function variants may lead to the development of recessive cardiomyopathy and sudden cardiac death.

GENETICS IN MEDICINE (2021)

Article Cardiac & Cardiovascular Systems

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Julie Hathaway et al.

Summary: The diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. High diagnostic variants in the RASopathy genes were identified in this study.

BMC CARDIOVASCULAR DISORDERS (2021)

Article Multidisciplinary Sciences

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Juha W. Koskenvuo et al.

Summary: This study found that biallelic or potentially biallelic NRAP variants were enriched in DCM patients compared to controls, suggesting that loss-of-function in NRAP is a cause for autosomal recessive dilated cardiomyopathy.

PLOS ONE (2021)

Article Cardiac & Cardiovascular Systems

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan et al.

Summary: A systematic curation of 51 genes related to DCM revealed that 19 genes have high evidence (12 definitive/strong, 7 moderate), but these genes only explain a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed.

CIRCULATION (2021)

Article Genetics & Heredity

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family

Shafaq Ramzan et al.

Summary: The study investigated a consanguineous Pakistani family with four patients with cardiac conduction disease and identified a novel homozygous missense mutation in the TNNI3K gene. Molecular dynamics simulations showed changes in protein surface and hydrogen bond network due to the mutation. Analysis revealed structural variations in the ATP-binding pocket and homodimer interface caused by the mutation, suggesting it as a pathogenic variant.

GENES (2021)

Article Cardiac & Cardiovascular Systems

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy

Zuhair N. Al-Hassnan et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)

Review Cardiac & Cardiovascular Systems

Hypertrophic cardiomyopathy: an updated review on diagnosis, prognosis, and treatment

George Makavos et al.

HEART FAILURE REVIEWS (2019)

Article Biochemistry & Molecular Biology

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Carola Hedberg-Oldfors et al.

HUMAN MOLECULAR GENETICS (2019)

Article Multidisciplinary Sciences

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Matias Wagner et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Arcangela Iuso et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Review Medicine, General & Internal

Clinical Course and Management of Hypertrophic Cardiomyopathy

Barry J. Maron

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Cardiac & Cardiovascular Systems

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Catalina Vasilescu et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)

Review Medicine, General & Internal

Dilated cardiomyopathy

Robert G. Weintraub et al.

LANCET (2017)

Article Genetics & Heredity

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy

Daniel P. S. Osborn et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

Yinghong He et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Cardiac & Cardiovascular Systems

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy

Alessandra Lorenzon et al.

AMERICAN JOURNAL OF CARDIOLOGY (2015)

Article Dermatology

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Vered Molho-Pessach et al.

PEDIATRIC DERMATOLOGY (2015)

Editorial Material Cardiac & Cardiovascular Systems

Arrhythmogenic Right Ventricular Cardiomyopathy With Recessive Inheritance Related to a New Homozygous Desmocollin-2 Mutation

Basil Al-Sabeq et al.

CANADIAN JOURNAL OF CARDIOLOGY (2014)

Article Clinical Neurology

Polyglucosan Body Myopathy Caused by Defective Ubiquitin Ligase RBCK1

Johanna Nilsson et al.

ANNALS OF NEUROLOGY (2013)

Article Cardiac & Cardiovascular Systems

Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

Brenda Gerull et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2013)

Article Genetics & Heredity

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy et al.

GENETICS IN MEDICINE (2011)

Article Biochemistry & Molecular Biology

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Baerbel Klauke et al.

HUMAN MOLECULAR GENETICS (2010)

Review Biochemistry & Molecular Biology

The ankyrin repeat as molecular architecture for protein recognition

LK Mosavi et al.

PROTEIN SCIENCE (2004)

Article Cardiac & Cardiovascular Systems

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

R Alcalai et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)