Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Atypical patterns of inheritance.

Andrea L Gropman1, David R Adams

  • 1Department of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA. agropman@cnmc.org

Seminars in Pediatric Neurology
|March 3, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

medRxiv : the preprint server for health sciences·2026
Same author

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.

JCI insight·2026
Same author

Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism.

bioRxiv : the preprint server for biology·2026
Same author

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Pigment cell & melanoma research·2026
Same author

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Human genomics·2026
Same author

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.

Journal of inherited metabolic disease·2026
Same journal

Concussion in contact sport: risks, detection, & prevention.

Seminars in pediatric neurology·2026
Same journal

A multidisciplinary, symptom-targeted approach to rehabilitation in pediatric concussion.

Seminars in pediatric neurology·2026
Same journal

Pediatric concussion beyond sports: Falls, play, and everyday activities.

Seminars in pediatric neurology·2026
Same journal

Return-to-school protocols in pediatric concussion care.

Seminars in pediatric neurology·2026
Same journal

Improving concussion recognition in youth sports: the role of parents, coaches, and community education.

Seminars in pediatric neurology·2026
Same journal

Concussion management, rehabilitation, and societal impact.

Seminars in pediatric neurology·2026
See all related articles

Genetic disorders often show unpredictable symptoms. This review explores how modifier genes and complex inheritance patterns, like digenic inheritance, explain variations in conditions such as cystic fibrosis and Huntington's disease.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Genotype-phenotype correlations in monogenic disorders are often incomplete.
  • Complex genetic mechanisms beyond single gene mutations contribute to disease variability.

Purpose of the Study:

  • To review the role of complex inheritance patterns in explaining phenotypic variability in monogenic disorders.
  • To discuss specific examples of human genetic disorders exhibiting complex inheritance.

Main Methods:

  • Literature review of well-known human genetic disorders.
  • Analysis of the roles of modifier genes, digenic/triallelic inheritance, imprinting, and opposite transcripts.

Main Results:

  • Modifier genes, digenic/triallelic inheritance, imprinting, and opposite transcripts significantly influence phenotypic expression.

Related Experiment Videos

  • Examples include cystic fibrosis, Huntington's disease, Connexin-related deafness, Bardet-Biedl syndrome, and Beckwith-Wiedemann syndrome.

    • Conclusions:

    • Complex inheritance mechanisms are crucial for understanding the full spectrum of genetic disorders.
    • Atypical inheritance patterns account for phenotypic variability not explained by genotype alone.