Recurrent and novel GLTP variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion.
case_series · Level IV
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- Record sourced from PubMed, PMID 42385053.
- Also identified by DOI 10.1093/bjd/ljag268 and PMC identifier 13585441.
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Abstract
This study reports four novel and one recurrent biallelic <i>GLTP</i> 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 histopathological feature of <i>GLTP</i>-related nEDD is cytoplasmic vacuolization of keratinocytes associated with autophagic flux impairment, suggesting a potential pathognomonic sign for this condition.