A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing

Gulhan Gurel; Muhsin Elmas; Basak Gogus

doi:10.24911/JBCGenetics/183-1656681352

2024, Vol: 7, Issue: 1

7 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

Case Report
Online Published: 03 Dec 2022

JBCGenetics. 2022; 5(2): 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

Gulhan Gurel, Muhsin Elmas, Basak Gogus.

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.

Key words: Congenital, ichthyosis, TGM1, whole exome sequencing.

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Gulhan Gurel Articles by Muhsin Elmas Articles by Basak Gogus
	on Google
	on Google Scholar

How to Cite this Article

Pubmed Style

Gurel G, Elmas M, Gogus B. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBCGenetics. 2022; 5(2): 043-047. doi:10.24911/JBCGenetics/183-1656681352

Web Style

Gurel G, Elmas M, Gogus B. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. https://www.jbcgenetics.com/?mno=73622 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1656681352

AMA (American Medical Association) Style

Gurel G, Elmas M, Gogus B. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBCGenetics. 2022; 5(2): 043-047. doi:10.24911/JBCGenetics/183-1656681352

Vancouver/ICMJE Style

Gurel G, Elmas M, Gogus B. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBCGenetics. (2022), [cited November 14, 2024]; 5(2): 043-047. doi:10.24911/JBCGenetics/183-1656681352

Harvard Style

Gurel, G., Elmas, . M. & Gogus, . B. (2022) A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. JBCGenetics, 5 (2), 043-047. doi:10.24911/JBCGenetics/183-1656681352

Turabian Style

Gurel, Gulhan, Muhsin Elmas, and Basak Gogus. 2022. A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. Journal of Biochemical and Clinical Genetics, 5 (2), 043-047. doi:10.24911/JBCGenetics/183-1656681352

Chicago Style

Gurel, Gulhan, Muhsin Elmas, and Basak Gogus. "A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing." Journal of Biochemical and Clinical Genetics 5 (2022), 043-047. doi:10.24911/JBCGenetics/183-1656681352

MLA (The Modern Language Association) Style

Gurel, Gulhan, Muhsin Elmas, and Basak Gogus. "A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing." Journal of Biochemical and Clinical Genetics 5.2 (2022), 043-047. Print. doi:10.24911/JBCGenetics/183-1656681352

APA (American Psychological Association) Style

Gurel, G., Elmas, . M. & Gogus, . B. (2022) A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing. Journal of Biochemical and Clinical Genetics, 5 (2), 043-047. doi:10.24911/JBCGenetics/183-1656681352

Most Viewed Articles

Most Accessed Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

The role of C-terminal tensin-like (Cten) gene in cancer metastasis
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689

Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195

Most Downloaded

Top Downloaded Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633

Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
JBCGenetics. 2021; 4(1): 27-34
» Abstract » doi: 10.24911/JBCGenetics/183-1601264923

Most Cited Articles

Most Cited Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Cited : 4 times [Click to see citing articles]

Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » doi: 10.24911/JBCGenetics/183-1546945268
Cited : 4 times [Click to see citing articles]

Harel-Yoon syndrome: the first case report from Saudi Arabia
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
JBCGenetics. 2020; 3(1): 22-27
» Abstract » doi: 10.24911/JBCGenetics/183-1585816398
Cited : 2 times [Click to see citing articles]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article