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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Related Experiment Video

Updated: Jul 1, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Servane de Masfrand1, Benjamin Cogné2, Mathilde Nizon2

  • 1Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000, Nantes, France.

European Journal of Medical Genetics
|March 7, 2024
PubMed
Summary
This summary is machine-generated.

Incomplete penetrance of genetic variants causing neurodevelopmental disorders may be more common than previously assumed. This finding impacts genetic counseling and diagnosis for families with these conditions.

Keywords:
Incomplete penetranceIntellectual disabilityMonogenicNeurodevelopmental disorder

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • Most monogenic diseases exhibit incomplete penetrance.
  • Neurodevelopmental disorders are typically interpreted using a complete penetrance model for single and multi-nucleotide variants (SNV/MNVs).

Purpose of the Study:

  • To investigate the frequency of incomplete penetrance for SNV/MNVs in monogenic neurodevelopmental disorders.
  • To assess the inheritance patterns of pathogenic variants from asymptomatic parents.

Main Methods:

  • A collaborative study with the French molecular diagnosis for intellectual disability network was conducted from 2020 to 2022.
  • Families with an index case of neurodevelopmental disorder carrying a pathogenic/likely pathogenic variant from an asymptomatic parent were recruited.
  • Segregation analysis was performed on available grandparents.

Main Results:

  • Twelve patients with monogenic neurodevelopmental disorders inherited pathogenic/likely pathogenic variants from asymptomatic parents.
  • Variants were identified in 11 genes, including CAMTA1, MBD5, KMT2C, and CUL3.
  • Segregation studies in 6 families confirmed the variants were de novo in the healthy carrier parent.

Conclusions:

  • Incomplete penetrance for SNV/MNVs in neurodevelopmental disorders might be underestimated.
  • This finding is critical for variant interpretation, family studies, genetic counseling, and prenatal diagnosis.
  • Further research is needed to elucidate the molecular mechanisms behind incomplete penetrance.