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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