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CTNND2-a candidate gene for reading problems and mild intellectual disability.
Wolfgang Hofmeister1, Daniel Nilsson2, Alexandra Topa3
1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Journal of Medical Genetics
|December 5, 2014
Summary
Chromosomal translocations in a mother and daughter revealed a CTNND2 gene microdeletion, linking its haploinsufficiency to cognitive dysfunction and neuronal migration defects.
Area of Science:
- Human Genetics
- Neurodevelopmental Disorders
- Genomics
Background:
- Chromosomal translocations are valuable in identifying genes associated with complex genetic disorders.
- Understanding the genetic basis of borderline intelligence and dyslexia spectrum learning problems is crucial.
Purpose of the Study:
- To investigate the genetic underpinnings of cognitive dysfunction in a mother and daughter with learning difficulties.
- To identify the specific genes and mechanisms responsible for the observed neurodevelopmental phenotypes.
Main Methods:
- Whole-genome sequencing to identify breakpoints of reciprocal translocations t(1;8) and t(5;18).
- Direct sequencing and array comparative genomic hybridization (aCGH) to pinpoint the 5p breakpoint within CTNND2.
- Zebrafish morpholino knockdown to assess the in vivo role of CTNND2 in neuronal migration.
Main Results:
- Identified a microdeletion in CTNND2 at 5p15.2 in patients, also present mosaicly in the mother.
- Discovered a CTNND2 polymorphism (rs2561622) affecting phonological ability and left frontal lobe white matter volume.
- Zebrafish embryos with CTNND2 knockdown exhibited misplaced neurons in the forebrain.
Conclusions:
- Haploinsufficiency of CTNND2, caused by microdeletions or translocations, contributes to cognitive dysfunction.
- Defective neuronal cell migration due to CTNND2 dysfunction is a key mechanism underlying these cognitive deficits.
- CTNND2 plays a significant role in normal neuronal migration and cognitive development.
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