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Table 1 Genotypes of the CHS patients

From: Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

Patients Phenotype Genotype
Mutation Mutation type
CHS 4 Classic c.1540C > T; p.R514X (exon 5) c.9893delT; p.F3298fsX3304 (exon 43) Nonsense/Frameshift
CHS 13 Classic c.4322_4325delAGAG;p.E1441VfsX11 (exon 12) c.4353G > A; p.W1451X (exon12) Frameshift/Nonsense
CHS 21 Classic c.10883dupA; p.Y3628X (exon 49) c.10883dupA; p.Y3628X (exon 49) Nonsense/Nonsense