What does this research mean for the field?

This study identifies six novel and three recurrent pathogenic variants in the CYLD gene among patients with multiple familial trichoepithelioma, expanding the mutational spectrum of the gene. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This research aims to expand the understanding of mutations in the CYLD gene related to multiple familial trichoepithelioma (MFT).

March 13, 2026JDDG Journal der Deutschen Dermatologischen Gesellschaft0 citations

Analysis of CYLD gene variants in 41 patients with multiple familial trichoepithelioma

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MCMengxing CuiSun Yat-sen University LZLiyun ZhengMinistry of Education of the People's Republic of China YZYue ZhangHubei University of Medicine

Key Points

This research aims to expand the understanding of mutations in the CYLD gene related to multiple familial trichoepithelioma (MFT).
Analyzed gene variants in 41 patients with multiple familial trichoepithelioma.
Identified novel and recurrent variants in the CYLD gene.
Expanded the current database of CYLD variants.
Identified six novel and three recurrent pathogenic variants in the CYLD gene.
Expanded the mutational spectrum of the CYLD gene to 144 variants.
Highlights the importance of genetic counseling for affected individuals.

Abstract

This study identified six novel and three recurrent pathogenic variants in the CYLD gene among 41 patients with MFT. Comprising the largest sample size report in this field to date, this work considerably expands the mutational spectrum of the CYLD gene (currently comprising 144 variants) and carries important implications for genetic counseling.

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Analysis of CYLD gene variants in 41 patients with multiple familial trichoepithelioma

Key Points

Abstract

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