From: Targeting epidermal lipids for treatment of Mendelian disorders of cornification
Patient no. | Type of MeDOC | Mutation analysis (gene, mutation on cDNA and protein level) | Treatment success |
---|---|---|---|
Age (years) | |||
Origin | |||
1 | CHILD syndrome | NSDHL: c.613G>A, p.G205S (heterozygous) | Yes |
18 | |||
German | |||
2 | CHILD syndrome | NSDHL: c.628C>T, p.Q210X (heterozygous) | Yes |
38 | |||
German | |||
3 | CHILD syndrome | NSDHL: c.262C>T, p.R88X (heterozygous) | Yes |
29 | |||
Egyptian | |||
4 | X-linked recessive ichthyosis | Deletion of STS (hemizygous) | No |
16 | |||
German | |||
5 | Autosomal recessive congenital ichthyosis | NIPAL4: c.527C>A; p.A176D (homozygous) | No |
13 | |||
Albanian |