Table 1 CHS1 mutations, illness severity, and effect on CHS1 protein of patients described in the literature

Homozygous

Nonsense/frameshift

c.1467delG

E489fsX566

[7]

Homozygous

Nonsense/frameshift

c.5784 + 5G > T

Acceptor splice site

[27]

Homozygous

Nonsense/frameshift

c.1899insA

K633fsX638

[33]

Homozygous

Missense

c.5996 T > A

V1999D

[34]

Homozygous

Nonsense/frameshift

c.9590delA

Y3197fsX3258

[33],[35],[36]

Homozygous

Missense

c.9827_9832del6bp

N3276_T3277del

[37]

Homozygous

Nonsense/frameshift

c.3085C > T

Q1029X

[38]

Compound heterozygous

Missense

c.10127A > G

N3376S

[39]

Nonsense/frameshift

c.2413delG

E805fsX806

Homozygous

Nonsense/frameshift

c.2620delT

F874fsX898

[35],[40]

Compound heterozygous

Missense

c.8428G > A

E2810K

[34]

Nonsense/frameshift

c.4274delT

L1425fsX1426

Homozygous

Nonsense/frameshift

c.10395delA

K3465fsX3467

[34]

Compound heterozygous

Missense

c.4361C > A

A1454D

[34]

Nonsense/frameshift

c.5061 T > A

Y1687X

Homozygous

Nonsense/frameshift

c.7060-7066del 7 bp

L2354fsX2369

[36]

Compound heterozygous

Missense

c.9925G > A

G3309S

[41]

Nonsense/frameshift

c.1507C > T

R503X

Homozygous

Nonsense/frameshift

c.7555delT

Y2519fsX2528

[35]

Heterozygous

Nonsense/frameshift

c.8583G > A

W2861X

[34]

Homozygous

Nonsense/frameshift

c.9106-9161del 56 bp

G3036fsX3051

[35]

Heterozygous

Nonsense/frameshift

c.148C > T

R50X

[38]

Homozygous

Nonsense/frameshift

c.6078C > A

Y2026X

[34]

Heterozygous

Nonsense/frameshift

c.3944-3945insC

Q1847fsX1850

[42]

Homozygous

Nonsense/frameshift

c.5004delA

G1668fsX1717

[36]

Homozygous

Nonsense/frameshift

c.3310C > T

R1104X

[7]

Homozygous

Nonsense/frameshift

c.5519delC

S1840fsX1842

[36]

Homozygous

Nonsense/frameshift

c.575insT

L192FfsX6

[36]

Homozygous

Nonsense/frameshift

c.3310C > T

R1104X

[35]

Homozygous

Nonsense/frameshift

c.575_576insT

L192fsX197

[27]

Homozygous

Nonsense/frameshift

c.11102G > T

E3668X

[43]

Homozygous

Nonsense/frameshift

c.3310C > T

R1104X

[27]

Homozygous

Nonsense/frameshift

c.5506C > T

R1836X

[14]

Homozygous

Missense

c.961 T > C

C258R

[18]

Homozygous

Nonsense/frameshift

c.7060-1G > A

Acceptor splice site

[27]

Homozygous

Missense

c.4189 T > G

F1397V

[44]

Homozygous

Nonsense/frameshift

c.10551_10552del2

Y3517X

[27]

Homozygous

Missense

c.4688G > A

R1563H

[34]

Homozygous

Nonsense/frameshift

c.5506C > T

R1836X

[27]

Homozygous

Homozygous

Nonsense/frameshift

c.2374_2375delGA

D792fsX797

[27]

Homozygous

Nonsense/frameshift

c.4508C > G

S1483X

[27]

Homozygous

Nonsense/frameshift

c.5506C > T

R1836X

[27]

Compound

Missense

c.2570C > G

S857C

[27]

heterozygous

Nonsense/frameshift

c.9930delT

F3310fsX3346

Compound heterozygous

Nonsense/frameshift

c.1540C > T

R514X

[45]

c.9893delT

F3298fsX3304

Compound heterozygous

Nonsense/frameshift

c.3622C > T

Q1208X

[46]

c.11002G > T

E3668X

Compound heterozygous

Nonsense/frameshift

c.10445insCA

V3483fsX3516

[47]

Not specified

R2403X

Heterozygous

Nonsense/frameshift

c.5317delA

R1773fsX1785

[35]

Heterozygous

Nonsense/frameshift

c.9228ins 10 bp

K3077fsX3080

[35]

Heterozygous

Nonsense/frameshift

c.118insG

A40fsX63

[6]

Heterozygous

Nonsense/frameshift

c.3073 + 3074delA

N1025fsX1030

[38]

Heterozygous

Nonsense/frameshift

c.2454delA

K818fsX823

[34]

Heterozygous

Nonsense/frameshift

c.3434-3435insA

H1145fsX1153

[34]

Heterozygous

Nonsense/frameshift

c.4052C > G

S1351X

[34]

Heterozygous

Nonsense/frameshift

c.3944-3945insC

T1315fsX1331

[42]

Compound heterozygous

Nonsense/frameshift

c.7060-1G > T

Acceptor splice sites

[27]

c.11196-1G > A

Homozygous

Missense

c.11362G > A

G3725R

[18]

Homozygous

Nonsense/frameshift

c.925C > T

R309X

[48]