A recurrent variant in two patients with <i>EMP2</i> -nonsyndromic epidermal differentiation disorder
We identify a recurrent de novo heterozygous variant (c.11T&gt;C, 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 1 month.
Authors
- Ulrike Blume‐Peytavi (ORCID: https://orcid.org/0000-0003-3528-3752)
- Nicole Cesarato (ORCID: https://orcid.org/0000-0001-8099-8146)
- R. Betz
- Tsenka Tomova-Simitchieva
- Hao Wang (ORCID: https://orcid.org/0000-0001-6881-9977)
- Zhimiao Lin
- Sisi Zhao
- Yunran Peng
Institutions
- University of Bonn (DE)
- University Hospital Bonn (DE)
- Humboldt-Universität zu Berlin (DE)
- Southern Medical University (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-02-05
- DOI
- https://doi.org/10.1093/bjd/ljag045
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00