Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis

Objective To explore the genetic cause for a child with congenital ichthyosis. Methods The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing. Results The proband was found to harbor compound heterozygous mutations c. 327delG (p.Met109Ilefs*2) and c. 791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c. 327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein. Conclusion The compound heterozygous mutations of c. 327delG and c. 791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree. Key words: Congenital ichthyosis; TGM1 gene; Variation