3. Novel variant of the TGM1 gene in association with lamellar ichthyosis

Nguyen Phuong Mai, Doan Thi Kim Phuong, Nguyen Thi Minh Ngoc, Hoang Thi Ngoc Lan, Luong Thi Lan Anh

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Abstract

Lamellar ichthyosis (LI) , the most common subtype of autosomal recessive congenital ichthyosis (ARCI), derives from homozygous and compound heterozygous mutations in the TGM1 gene. In this study, we report a compound homozygous variant in two siblings with lamellar ichthyosis, specifically c.167C>T and c.653G>T, identified through next-generation sequencing (NGS) and validated by Sanger sequencing. We then classified the variants according to the ACMG/AMP/Clingen SVI criteria and predicted their impact on protein function using multiple in-silico algorithms. The novel variant, c.653G>T was proven to be the cause of LI in the family. This study adds valuable data regarding TGM1 variants in the congenital ichthyosis population in Vietnam, providing a critical basis for diagnosis, genetic counseling, and patient management.

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References

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