Patent ID: 7767397

Claim:
A method of detecting the presence of, or predisposition to, the non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a human subject, comprising assessing, in a biological sample from said subject, the presence of a genetic alteration of one residue on paternal and maternal alleles of the ICHTHYIN gene, wherein the genetic alteration is selected from 247C->T, 239G->T, 341C->A, 437C->T, 523C->G and 703G->A in SEQ ID NO: 1 and detecting the presence of, or predisposition to, the non-syndromic autosomal recessive congenital ichthyosis (ARCI) in said subject when the presence of an aforementioned genetic alteration is detected on paternal and maternal alleles of said gene.