Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Gülnerman E. K., HANEDAN N., AKILLIOĞLU M., KAYHAN G., ADIŞEN E., ERDEM Ö., ...More

Annals of Dermatology, vol.35, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35
  • Publication Date: 2023
  • Doi Number: 10.5021/ad.21.134
  • Journal Name: Annals of Dermatology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Keywords: Ichthyosis, Infant, newborn, Transglutaminase 1
  • Gazi University Affiliated: Yes

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.