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Updated: Dec 21, 2025
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
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Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12
Tess Donoghue1, Lauren Garrity1, Andrew Ziolkowski2
1University of Newcastle, Callaghan, New South Wales, Australia.
American Journal of Medical Genetics. Part A
|May 20, 2020
Summary
Genetic mutations in TRIP12 cause intellectual disability (ID) and developmental delays. These findings highlight variable symptoms, including autism and epilepsy, in affected individuals, underscoring the need for genetic testing.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Intellectual disability (ID) is a complex condition with diverse genetic underpinnings.
- Pathogenic variants in the TRIP12 gene have been associated with ID, autistic behavior, and dysmorphic features.
Observation:
- Two unrelated patients presented with de novo TRIP12 mutations, exhibiting global developmental delay, autism spectrum disorder, and dysmorphic features.
- Exome sequencing identified these genetic variations as part of comprehensive diagnostic workups.
- Epilepsy was present in one patient, consistent with approximately 20% of previously reported cases.
Findings:
- The study confirms de novo mutations in TRIP12 as a cause of intellectual disability and related neurodevelopmental conditions.
- Phenotypic presentations associated with TRIP12 variations are highly variable.
- Core features include ID, speech delay, and autistic features, with epilepsy as a potential comorbidity.
Implications:
- These findings expand the understanding of TRIP12-related disorders and their phenotypic spectrum.
- Highlights the importance of genetic analysis, including exome sequencing, in diagnosing complex developmental disorders.
- Emphasizes the role of TRIP12 in neurodevelopment and the ubiquitin-protease pathway.
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