What question did this study set out to answer?

To investigate the role of a recurrent EMP2 variant in two patients with EMP2-nEDD.

February 12, 2026British Journal of Dermatology0 citations

A recurrent variant in two patients with EMP2 -nEDD

YPYunran PengSouthern Medical University NCNicole CesaratoUniversity of Bonn TTTsenka Tomova-SimitchievaHumboldt-Universität zu Berlin

Key Points

To investigate the role of a recurrent EMP2 variant in two patients with EMP2-nEDD.
Genetic analysis to identify the EMP2 variant in patients.
Functional studies to assess localization and impact on cellular signaling.
Clinical evaluation post-treatment with the EGFR inhibitor erlotinib.
Identified a recurrent variant in EMP2 causing disrupted plasma membrane localization.
The variant triggered ligand-independent activation of EGFR.
One patient displayed significant clinical improvement after erlotinib treatment.

Abstract

We identify a recurrent de novo heterozygous variant (c.11TC, p.Leu4Pro) in EMP2 as a cause of EMP2-nEDD in two sporadic patients. Functional studies revealed that the variant exhibited significantly reduced localization at the plasma membrane, disrupting lipid raft integrity and triggering ligand-independent EGFR activation and internalization. Consequently, treatment with the EGFR inhibitor erlotinib led to significant clinical improvement in one patient after one month.

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