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Table 2 biochemical and molecular findings in published patients with KARS mutations

From: KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Patient

Family

Nucleotide mutations

Protein change(s)

Lactate

MRC activity

Reference

Pt 1

Fam. 1

c.398 T > A; c.514_515insTT

p.Leu133His; p.Tyr173Serfs*9

n.a.

n.a.

McLaughlin HM et al. 2010 [8]

Pts 2–8

Fam. 2

c.1129G > A; c.1129G > A

p.Asp377Asn

n.a.

n.a.

Santos-Cortez RL et al. 2013 [9]

Pts 9–14

Fam. 3–4

c.517 T > C; c.517 T > C

p.Tyr173His

n.a.

n.a.

Santos-Cortez RL et al. 2013 [9]

Pt 15

Fam. 5

c.1760C > T; c.683C > T

p.Thr587Met; p.Pro228Leu

Elevated (CSF)

n.a.

Lieber et al. 2013 [4]

Pt 16

Fam. 6

c.1396C > T; c.1657G > A

p.Arg466Trp; p.Glu553Lys

Normal (plasma)

n.a.

McMillan et al. 2015 [5]

Pt 17

n.a.

n.a.

McMillan et al. 2015 [5]

Pt 18

Fam. 7

c.169G > C; deletion at chr16:75672800–75,680,400

p.Ala57Pro; loss of starting codon

n.a.

n.a.

Joshi et al. 2016 [6]

Pt 19

Fam. 8

c.1037 T > C; c.1427 T > A

p.Ile346Thr; p.Val476Asp

Elevated

cI-IV defects (fibroblast)

Kohda et al. 2016 [11]

Pt 20

Fam. 9

c.1133 T > A; c.1253C > G

p.Leu378His; p.Pro418Arg

Elevated

cI-IV defects (muscle)

Verrigni et al. 2016 [12]

Pts 21–22

Fam. 10

c.1514G > A; c.1597C > T

p.Arg505His; p.Pro533Ser

n.a.

n.a.

Zhou et al. 2017 [10]

Pt 23

Fam. 11

c.1577C > T; c.1466 T > G

p.Ala526Val; p.Phe489Cys

n.a.

n.a.

Murray et al. 2017 [7]

Pt 24

n.a.

Normal (muscle)

Pt 25

Fam. 12

c.1514G > A; c.1514G > A

p.Arg505His

Normal (plasma and CSF)

cI, I + III,II + III defects (muscle)

This report (Pt A); Orcesi et al. 2011 [13]

Pt 26

Fam. 13

c.1124A > G; c.381C > G

p.Tyr375Cys; p.Phe127Leu

Elevated (plasma), normal (CSF)

Normal (fibroblasts)

This report (Pt B)

Pt 27

Fam. 14

c.815 T > G; c.1043G > A

p.Phe272Cys; p.Arg348His

Elevated (plasma), normal (CSF)

Normal (fibroblasts)

This report (Pt C)