Table 1 Genotypes of the CHS patients
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 |