CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

Ates E. A., Onay H., ERTAM SAĞDUYU İ., Ataman E., Hazan F., DURMAZ A., ...More

TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, vol.14, no.4, pp.90-94, 2020 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.4103/tjd.tjd_91_20
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.90-94
  • Keywords: Autosomal recessive, genetic diseases, mechanisms, ichthyosis, sanger sequencing, LAMELLAR ICHTHYOSIS, ATOPIC-DERMATITIS, SPECTRUM, FORM
  • Dokuz Eylül University Affiliated: Yes


Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis, self-healing collodion baby, and bathing suit ichthyosis. Mutations in TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3 genes have been described in patients with ARCI. However, in 20% of the ARCI patients, the genetic defect remains unknown. Materials and Methods: In this study, we investigated the mutations in the CYP4F22 gene in ARCI patients who do not have mutations in two common ARCI genes, NIPAL4 and TGM1. Twenty-two patients diagnosed with ARCI and having no mutations in TGM1 and NIPAL4 genes were included in the study. Their CYP4F22 genes were sequenced using the Sanger sequencing method. Results: In 5 of 22 (22.7%) ARCI patients, four different mutations, of which two were previously reported, were found. The two novel mutations were c.976C> T and c.1189C> T. The c.727C> T and c.1303C>T mutations were previously reported. Conclusions: This study expands the CYP4F22 mutation spectrum and to provide more accurate genetic counseling for patients at risk.