Case Report
Volume: 5 | Issue: 2 | Published: Dec 03, 2022 | Pages: 043 - 047 | DOI: 10.24911/JBCGenetics/183-1656681352
A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
Authors:
Gulhan Gurel
, Muhsin Elmas
, Basak Gogus
Article Info
Authors
Gulhan Gurel
Department of Dermatology, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Muhsin Elmas
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
Basak Gogus
Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.
Publication History
Received: July 01, 2022
Revised: November 10, 2022
Accepted: November 15, 2022
Published: December 03, 2022
Abstract
Background: The "autosomal recessive congenital ichthyosis (ARCI)" refers to a group of rare, heterogeneous, and non-syndromic disorders of keratinization, represented as abnormal scales over the entire body and attributable to defective epidermal keratinocyte differentiation and lipid metabolism. ARCI is caused by mutations in a wide variety of genes, including ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1, CERS3, PNPLA1, CASP14, SDR9C7, and SULT2B1. The most common cause of ARCI is a TGM1 gene mutation, which is strongly associated with a collodion membrane at birth. Case presentation: A 15-year-old male patient presented with extensive scaling over the entire body since birth. His history revealed that he was born ash-colored in a membrane, kept in an incubator for one month, and clinically diagnosed with ichthyosis at birth. The patient, who had undergone no previous genetic testing, was subjected to whole exome sequencing with the preliminary diagnosis of autosomal recessive/X-linked recessive congenital ichthyosis. The analysis identified a homozygous c.1020delG change in the TGM1 gene in the form of a frameshift mutation that is classified as pathogenic according to the American College of Medical Genetics criteria. Conclusion: Next-generation sequencing technologies employing whole-exome sequencing enable the sequencing of all protein-coding DNA regions in a single run.
Keywords: Congenital, ichthyosis, TGM1, whole exome sequencing
Pubmed Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBC Genetics. 2022; 03 (December 2022): 043-047. doi:10.24911/JBCGenetics/183-1656681352
Web Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. https://www.jbcgenetics.com/index.php/articles/2107 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1656681352
AMA (American Medical Association) Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBC Genetics. 2022; 03 (December 2022): 043-047. doi:10.24911/JBCGenetics/183-1656681352
Vancouver/ICMJE Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBC Genetics. (2022), [cited April 27, 2025]; 03 (December 2022): 043-047. doi:10.24911/JBCGenetics/183-1656681352
Harvard Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus (2022) A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBC Genetics, 03 (December 2022): 043-047. doi:10.24911/JBCGenetics/183-1656681352
Chicago Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. "A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing." 03 (2022), 043-047. doi:10.24911/JBCGenetics/183-1656681352
MLA (The Modern Language Association) Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus. "A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing." 03.December 2022 (2022), 043-047. Print. doi:10.24911/JBCGenetics/183-1656681352
APA (American Psychological Association) Style
Gulhan Gurel, Muhsin Elmas, Basak Gogus (2022) A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. , 03 (December 2022), 043-047. doi:10.24911/JBCGenetics/183-1656681352