Recurrent and novel <i>GLTP</i> variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion
This study reports four novel and one recurrent biallelic GLTP variants in a new cohort, solidifying its role in nonsyndromic epidermal differentiation disorder (nEDD). The recurrent variant c.58_62del shows a founder effect in the Chinese population. A consistent histopathologic feature of GLTP-related nEDD is cytoplasmic vacuolization of keratinocytes associated with autophagic flux impairment, suggesting a potential pathognomonic sign for this condition.
Authors
- Zhimiao Lin (ORCID: https://orcid.org/0000-0002-3240-1998)
- Zeqiao Zhang (ORCID: https://orcid.org/0000-0003-0333-9512)
- Xingyuan Jiang (ORCID: https://orcid.org/0000-0002-9891-6353)
- Huijun Wang (ORCID: https://orcid.org/0000-0001-5414-1472)
- Yongfeng Chen (ORCID: https://orcid.org/0000-0001-6009-9354)
- Angela J. Luo
- C Chia-Kai Yang
- Keith A Choate
- Erin Mathes
Institutions
- University of California, San Francisco (US)
- Yale University (US)
- Southern Medical University (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-07-01
- DOI
- https://doi.org/10.1093/bjd/ljag268
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00