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April 29, 2026American Journal of Medical Genetics Part A

Blaschko‐Linear TGM1 ‐ nEDD Associated With Mosaic Genome‐Wide Uniparental Isodisomy

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Authors

ALAngela LuoXJXingyuan JiangWLW Liu

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Overview

Case report demonstrates uniparental isodisomy leading to mosaic tgm1-nEDD with lamellar ichthyosis, indicating genetic implications.

Key Points

  • To describe a patient with mosaic tgm1-nEDD associated with genome-wide uniparental isodisomy.
  • Documented clinical case of a six-year-old girl with tgm1-nEDD.
  • Conducted paired exome sequencing of saliva and affected skin samples.
  • Biopsy of affected skin analyzed for histological features.
  • Identified a heterozygous pathogenic TGM1 variant.
  • Confirmed co-occurrence of homozygosity in affected keratinocytes.
  • Demonstrated that mosaic genome-wide UPD underlies Blaschko-linear phenotypes.

Cite This Study

Luo et al. (2026) studied this question.

synapsesocial.com/papers/69f1547f879cb923c4944abbhttps://doi.org/10.1002/ajmg.a.70181
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients2026
  2. 2Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD)2026
  3. 3Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form2024
  4. 4Blaschkolinear comedonal nodules and plaques with congenital onset2024
  5. 5Junctional Epidermolysis Bullosa with Inactive Skin Fragility2025