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Table 4 Non-MD genes detected by WES and the diagnostic yield in non-MD genes in five studies (including this study)

From: Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Categorization Current study Theunissen et al. [10] Kohda et al. [9] Pronicka et al. [8] Wortmann et al. [7]
Neuronal diseases ATP1A3 ALDH5A1 ARX FA2H KCNT1 NEFL NKX2-2 TBCK WAC IER3IP1 IARS CHRNE SLC16A2 MECP2 ADAR CACNA1A CLN3 DMD DYSF GBE1 GFAP HSD17B4 MECP2 MYBPC1 PGAP2 ARID1B SCN1A ASPM CTNNB KDM6A SMARCA4 SETBP1 ACTA1 NGLY1 ALDH4A1 RAPSN COL4A1 TBR1
Eye diseases   HPS1    
Metabolic diseases LDHD     
Haematological diseases   BICD2   CPS1 PRF1 SBDS  
Cardiological diseases    TNNI3   
Nephrological disease     PIGN SLC3A1
Endocrine diseases NKX2-2     
Not found in GeneAnalytics     PEXS CTNNB SEPN1
Diagnostic yield in non-MD genes 18% (12/66) 6% (5/86) 2% (3/142) 17% (19/113) 19% (21/109)
  1. Categorization was based on GeneAnalytics [23]. MECP2 is the only non-MD-associated gene that has appeared in more than one study