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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Simone Martinelli1, Oliver H F Krumbach2, Francesca Pantaleoni3
1Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
American Journal of Human Genetics
|February 4, 2018
Summary
Missense variants in the CDC42 gene cause a spectrum of developmental disorders. These mutations impact cell signaling, leading to varied clinical features and highlighting the need for functional studies in diagnosing genetic syndromes.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Exome sequencing advances Mendelian disorder gene discovery.
- Phenotypic heterogeneity from allelic mutations is increasingly recognized.
Purpose of the Study:
- To investigate the role of CDC42 gene variants in clinically heterogeneous phenotypes.
- To characterize the functional impact of CDC42 mutations.
Main Methods:
- Exome sequencing
- In silico, in vitro, and in vivo functional analyses
- Assessment of GTPase activity and effector interactions
Main Results:
- Missense variants in CDC42 are associated with variable growth dysregulation, facial dysmorphism, neurodevelopmental, immunological, and hematological anomalies.
- Mutations alter CDC42 GTPase activity and effector interactions, perturbing cellular and developmental processes.
- A phenotype resembling Noonan syndrome was observed.
Conclusions:
- Dominantly acting CDC42 mutations exhibit remarkably variable effects on cell function and development.
- Challenges exist in defining syndromes due to phenotypic heterogeneity.
- Functional profiling is crucial for syndrome recognition and delineation.
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