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Table 2 List of disease with possible disease-causing alterations detected in patients

From: Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

Case

Gene

Disease (OMIM)

Mode

Nucleotide change a

Protein change

dbSNP rs ID

MAF (%)

HGMD ID

Parental result/patient’s sex

Polyphen2 predictionb

RCC subunit and assembly factor

 1

NDUFS2

Mitochondrial complex 1 deficiency (252010)

AR

NM_004550.4 455_457delCTC

Ser152del

---

---

---

Paternal

---

875 T > C

Met292Thr

150667550

<0.01

CM094573

Maternal

Possibly damaging

 2

NDUFAF5

Mitochondrial complex 1 deficiency (252010)

AR

NM_024120.4 164A > G

Gln55Arg

---

---

---

Maternal

Probably damaging

    

327 + 3A > G

 

---

---

---

Paternal

 

mtDNA synthesis, transcription, translation, mitochondrial biogenesis and dynamic

 3*

MTFMT

Leigh syndrome (256000)

AR

NM_139242.3 626G > A

Ser209Leu

201431517

0.1

CS117162

Paternal

Possibly damaging-

998G > C

Ser333Ter

---

---

 

Maternal

---

 4

TYMP

Mitochondrial DNA depletion syndrome 1 (MNGIE type) (603041)

AR

NM_001953.3 1160G > A homozygote

Gly387Asp

---

---

CM055161

---

Probably damaging

Mitochondrial enzymes

 5*

ETFB

Glutaric acidemia IIB (231680)

AR

NM_001014763.1 235G > A

Val79Ile

140608276

0.4

---

Maternal

Benign

565C > T

Arg189Cys

147353781

0.3

---

Paternal

Possibly damaging

 6

PANK2

HARP syndrome (607236) / Neurodegeneration with brain iron accumulation 1 (234200)

AR

NM_153638.2 137A > T

Asp46Val

148036492

0.2

---

Maternal

Benign

1561G > A

Gly521Arg

137852959

<0.02

CM014248

Paternal

Probably damaging

 7*

PCK2

PEPCK deficiency, mitochondrial (261650)

AR

NM_004563.2 731G > A

Arg244Gln

---

<0.02

---

Not in mother; father not sequenced

Possibly damaging

1756G > A

Gly586Ser

61737098

0.4

---

Maternal

Possibly damaging

 8*

OTC

Ornithine transcarbamylase deficiency (311250)

X-linked

NM_000531.5 298 + 5G > C hemizygote

---

72554348

0.2

CS063357

Male

---

Other genes that affect mitochondrial function or that cause similar clinical phenotypes

9*/13

SPAST

Spastic paraplegia 4 (182601)

AD

NM_014946.3 1625A > G

Asp542Gly

142053576

<0.05

CM054864

---

Benign

 10

CLN6

Ceroid lipofuscinosis (CLN) 6 (601780)/ CLN Kufs type (204300)

AR

NM_017882.2 278 T > C

Thr93Met

150001589

<0.04

CM120905

Maternal

Probably damaging

775G > A

Gly259Ser

150363441

<0.02

Paternal

Probably damaging

 11

SLC12A3

Gitelman syndrome (263800)

AR

NM_000339.2 322C > T

Arg108Trp

---

---

CM117057

---

Possibly damaging

965C > T

Ala322Val

142679083

0.5

CM117024

---

Benign

 12*

SLC3A1

Cystinuria (220100)

AR

NM_000341.3 241C > T

Arg81Cys

149813423

<0.02

CM090053

Maternal

Benign

1400 T > C

Met467Thr

121912691

0.4

CM941280

Paternal

Benign

  1. a All variants listed were heterozygous, except where notated otherwise.
  2. b Prediction by Polyphen2 HumVar model.
  3. * cases for which abnormal RCC activity and/or muscle pathology were reported.