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Article

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

The British journal of dermatology - 10 Feb 2023

Li Mingfeng, Lay Kenneth, Zimmer Andreas, Technau-Hafsi Kristin, Wong Jasmine, Reimer-Taschenbrecker Antonia, Rohr Jan, Abdalla Ebtesam, Fischer Judith, Reversade Bruno, Has Cristina

Abstract excerpt

BACKGROUND: A trio exome sequencing study identified a previously unreported NLRP1 gene variant resulting in a p.Leu813Pro substitution of the LRR (leucine-rich repeats) domain of the NLRP1 protein (NACHT, LRR and PYD domains-containing protein 1). This homozygous mutation was shared by two sisters with different clinical presentation: the younger sister had generalized inflammatory nodules with keratotic plugs,...

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PMID: 36763876
DOI: 10.1093/bjd/ljac039

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