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

Medicina (Kaunas, Lithuania) - 2 Jan 2023

Almazroea Abdulhadi, Ijaz Ambreen, Aziz Abdul, Mushtaq Yasinzai Muhammad, Rafiullah Rafiullah, Rehman Fazal Ur, Daud Shakeela, Shaikh Rozeena, Ayub Muhammad, Wali Abdul

Abstract excerpt

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...

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Identifiers

PMID: 36676727
DOI: 10.3390/medicina59010103
PMCID: PMC9866252

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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