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Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M Schmid1,2, Anne Gregor1,2, Anna Ruiz3
1Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
European Journal of Human Genetics : EJHG
|December 12, 2024
Summary
Genetic variants in SCAF4 are linked to neurodevelopmental disorders. This study expands understanding of the SCAF4 gene
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Recent identification of SCAF4 variants in individuals with neurodevelopmental phenotypes.
- Limited knowledge on the molecular and clinical spectrum of SCAF4-associated disorders.
Purpose of the Study:
- To further characterize the molecular and clinical spectrum of SCAF4-associated neurodevelopmental disorder.
- To evaluate clinical data, in silico predictions, and structural modeling of SCAF4 variants.
Main Methods:
- Ascertainment of 50 novel individuals with SCAF4 variants.
- Detailed clinical evaluation.
- In silico predictions and structural modeling of SCAF4 variants.
Main Results:
- Characterized molecular spectrum including 25 truncating, 8 splice-site, and 5 missense variants.
- Identified frequent clinical findings: developmental delay, speech impairment, seizures, and skeletal abnormalities.
- Cognitive abilities ranged from normal to severe intellectual disability, with most individuals exhibiting borderline to mild intellectual disability.
Conclusions:
- Confirms the role of SCAF4 variants in neurodevelopmental disorders.
- Further delineates the clinical phenotype associated with SCAF4 variants.
- Highlights the importance of SCAF4 in neurodevelopment.
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