Study reports novel GLTP variants linked to phenotypes in a cohort with epidermal differentiation disorder, suggesting new insights.
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.
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Zhang et al. (2026) studied this question.
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