Table 2 Nonmitochondrial disease gene variants identified in the patient cohort.

From: The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Patient ID

Disease severity score

Gene

Chromosome: RefSeq

Variant 1

Status

Variant 2

Status

Zygosity

Inheritance mode

Disease

21

Probable

ARX

chrX:NM_139058.2

c.1607G>C p.(Arg536Thr)

Novel LP

-

 

hemi

XLR

Epileptic encephalopathy

22

Definite

EPG5

chr18:NM_020964.3

c.4327C>T p.(Gln1443*)

Novel P

c.6049+5G>A splice site variant

Novel LP19

comp het

AR

Vici syndrome

23

Probable

G6PC

chr17:NM_000151.3

c.247C>T p.(Arg83Cys)

Known P

c.1051C>T p.(Gln351*)

Novel LP

comp het

AR

Glycogen storage disease Ia

24

Possible

HRAS

chr11:NM_005343.3

c.350A>G p.(Lys117Arg)

Known P

-

 

het

AD (de novo)

Costello syndrome

25

Probable

NBAS

chr2: NM_015909.3

c.2617C>T p.(Arg873Trp)

Novel LP

c.2423+404G>C splicing silencer variant

Novel LP20

comp het

AR

Infantile liver failure syndrome 2

26

Probable

SKIV2L

chr6:NM_006929.4

c.904C>T p.(Gln302*)

Novel P

c.2662_2663del p.(Arg888Glyfs*12)

Known P

comp het

AR

Trichohepatoenteric syndrome 2

27

Probable

SLC39A8

chr4:NM_022154.5

c.338G>C p.(Cys113Ser)

Novel LP

c.338G>C p.(Cys113Ser)

Novel LP22

hom

AR

Congenital disorder of glycosylation IIn

  1. AD autosomal dominant, AR autosomal recessive, comp het compound heterozygous, hemi hemizygous, hom homozygous, LP likely pathogenic, P pathogenic, XLR X-linked recessive.
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