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Article

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

by
Abdulhadi Almazroea
1,†,
Ambreen Ijaz
2,3,†,
Abdul Aziz
4,
Muhammad Mushtaq Yasinzai
2,
Rafiullah Rafiullah
2,
Fazal Ur Rehman
5,
Shakeela Daud
2,
Rozeena Shaikh
2,
Muhammad Ayub
6 and
Abdul Wali
2,*
1
Pediatrician, Associate Professor at College of Medicine, Taibah University, Madinah 41477, Saudi Arabia
2
Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta 87300, Pakistan
3
Department of Zoology, SBK Women’s University, Quetta 87500, Pakistan
4
Department of Computer Sciences and Bioinformatics, Khushal Khan Khattak University, Karak 27200, Pakistan
5
Department of Microbiology, University of Balochistan, Quetta 87550, Pakistan
6
Institute of Biochemistry, University of Balochistan, Quetta 87550, Pakistan
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Medicina 2023, 59(1), 103; https://doi.org/10.3390/medicina59010103
Submission received: 18 October 2022 / Revised: 25 November 2022 / Accepted: 28 December 2022 / Published: 2 January 2023
(This article belongs to the Special Issue Genetics and Inherited Diseases)
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Abstract

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. PCR amplification of all the exons and splice site junctions of the TGM1 gene followed by Sanger sequencing was performed on the genomic DNA. The identified variant was checked by In silico prediction tools to evaluate the effect of the variant on protein. Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools.
Keywords: lamellar ichthyosis; TGM1; nonsense mutation; in silico analysis lamellar ichthyosis; TGM1; nonsense mutation; in silico analysis

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MDPI and ACS Style

Almazroea, A.; Ijaz, A.; Aziz, A.; Mushtaq Yasinzai, M.; Rafiullah, R.; Rehman, F.U.; Daud, S.; Shaikh, R.; Ayub, M.; Wali, A. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. Medicina 2023, 59, 103. https://doi.org/10.3390/medicina59010103

AMA Style

Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. Medicina. 2023; 59(1):103. https://doi.org/10.3390/medicina59010103

Chicago/Turabian Style

Almazroea, Abdulhadi, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, and Abdul Wali. 2023. "Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family" Medicina 59, no. 1: 103. https://doi.org/10.3390/medicina59010103

APA Style

Almazroea, A., Ijaz, A., Aziz, A., Mushtaq Yasinzai, M., Rafiullah, R., Rehman, F. U., Daud, S., Shaikh, R., Ayub, M., & Wali, A. (2023). Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. Medicina, 59(1), 103. https://doi.org/10.3390/medicina59010103

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