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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Most plants use the C3 pathway for carbon fixation. However, some plants, such as sugar cane, corn, and cacti that grow in hot conditions, use alternative pathways to fix carbon and conserve energy loss due to photorespiration. Photorespiration is the process that occurs when the oxygen concentration is high. Under such conditions, the rubisco enzyme in the Calvin cycle binds O2 instead of CO2, which halts photosynthesis and consumes energy.
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Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Nov 10, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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A familial case of CAMK2B mutation with variable expressivity.

Paige Heiman1, Sarah Drewes1, Lina Ghaloul-Gonzalez1,2,3

  • 1Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

SAGE Open Medical Case Reports
|April 2, 2021
PubMed
Summary

Pathogenic variants in Calcium/calmodulin-dependent protein kinase II beta (CAMK2B) can cause neurodevelopmental disorders. This study reveals intrafamilial variability in disease severity for a CAMK2B mutation, challenging previous findings of solely de novo occurrences.

Keywords:
CAMK2Bfamilial mutationneurodevelopmental diseaseseizuresvariable expression

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Variants in Calcium/calmodulin-dependent protein kinase II beta (CAMK2B) are linked to neurodevelopmental disorders and intellectual disability.
  • Reported clinical manifestations include a wide spectrum of neurological and developmental issues.
  • Phenotypic heterogeneity is a recognized characteristic of these disorders.

Observation:

  • A child presented with a neurodevelopmental disorder attributed to a pathogenic CAMK2B variant.
  • The affected child inherited the variant from their mother, who exhibited milder symptoms.
  • A sibling with the same variant displayed less severe clinical features.

Findings:

  • This case demonstrates that CAMK2B mutations can be inherited, not exclusively de novo.
  • Intrafamilial variability in the expression of CAMK2B mutations is evident.
  • The study expands the known clinical and genetic spectrum of CAMK2B-related disorders.

Implications:

  • Understanding the inheritance patterns of CAMK2B variants is crucial for genetic counseling.
  • Recognizing intrafamilial variability aids in predicting disease course and management.
  • Further research into genotype-phenotype correlations in CAMK2B disorders is warranted.