Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Ekim Zihni TaşkiranBeren KaraosmanoğluC KoşukcuG Ürel-DemirÖ Akgün-DoğanP Ö Şimşek-KiperM AlikaşifoğluK BoduroğluGülen Eda UtinePublished in: Journal of intellectual disability research : JIDR (2021)
This cohort suggests that recessive genes probably represent an actually smaller subgroup of NSID, even among families with consanguinity. Although in societies with high consanguinity rates, considering the recessive inheritance first seems to be an advantageous strategy, de novo mutations in autosomal dominantly expressed genes represent the major aetiological group in patients with NSID, even among those patients from consanguineous families.
Keyphrases
- intellectual disability
- autism spectrum disorder
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- chronic kidney disease
- prognostic factors
- bioinformatics analysis
- peritoneal dialysis
- dna methylation
- clinical trial
- gene expression
- mitochondrial dna
- randomized controlled trial
- muscular dystrophy
- patient reported