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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Related Experiment Video

Updated: Jun 2, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Judith E Allanson1, Göran Annerén, Yoki Aoki

  • 1Department of Genetics at Children’s Hospital of Eastern Ontario. allanson@cheo.on.ca

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|April 16, 2011
PubMed
Summary

Cardio-facio-cutaneous (CFC) syndrome, caused by BRAF or MEK gene mutations, presents with congenital heart defects and distinct facial features. Pulmonary stenosis is more common in BRAF-mutated CFC syndrome.

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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Cardio-facio-cutaneous (CFC) syndrome is a rare genetic disorder characterized by multiple congenital anomalies and intellectual disability.
  • It is primarily associated with mutations in BRAF, MEK1, and MEK2 genes, though other genes can cause overlapping phenotypes.
  • Despite over 100 reported cases, detailed genotype-phenotype correlations in CFC syndrome remain under-explored.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in a large cohort of individuals with mutation-proven CFC syndrome.
  • To detail the breadth of clinical features associated with specific genetic mutations in CFC syndrome.
  • To identify any statistically significant correlations between genotype and specific clinical manifestations.

Main Methods:

  • This clinical study analyzed 186 children and young adults with genetically confirmed CFC syndrome.
  • Genetic analysis identified mutations in BRAF (approximately 75%) and MEK1/MEK2 (approximately 25%).
  • Clinical data, including previously unpublished information on 50 individuals, were collected and analyzed for genotype-phenotype correlations.

Main Results:

  • BRAF mutations were identified in 140 individuals, while MEK1 or MEK2 mutations were found in 46.
  • The study provides comprehensive phenotypic data, expanding on previously published information.
  • Pulmonary stenosis was the only anomaly showing a statistically significant association, being more prevalent in individuals with BRAF mutations.

Conclusions:

  • This study represents the largest cohort to date for mutation-proven CFC syndrome, offering significant insights into genotype-phenotype correlations.
  • While CFC syndrome exhibits a wide range of features, pulmonary stenosis is a key indicator associated with BRAF mutations.
  • Further research into genotype-phenotype relationships can aid in understanding disease variability and potentially inform clinical management.