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

From: Towards the targeted management of Chediak-Higashi syndrome

‘Childhood’ form of the disease ‘Adolescent’or ‘Adult’ form of the disease
Genotype Effect on LYST mRNA mRNA Protein Reference Genotype Effect on LYST mRNA mRNA Protein Reference
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]      
  1. The type of presentation is unknown in two patients: (1) compound heterozygosity for c.7982C > G and c.8281A > T frameshift mutations [42]; (2) c.10747G > homozygous missense mutation [49]. CHS, Chediak-Higashi syndrome. GenBank: U67615.1.