Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.
Zuzana CapkovaPavlina CapkovaJosef SrovnalKaterina AdamovaMartin ProchazkaMarian HajduchPublished in: Molecular genetics & genomic medicine (2021)
We concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases of DOCK8 intragenic duplication. DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.
Keyphrases
- copy number
- end stage renal disease
- genome wide
- newly diagnosed
- ejection fraction
- chronic kidney disease
- autism spectrum disorder
- genome wide identification
- peritoneal dialysis
- prognostic factors
- attention deficit hyperactivity disorder
- gene expression
- dna methylation
- patient reported outcomes
- intellectual disability
- cord blood
- working memory