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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : Clinical genetics

LEF1 haploinsufficiency causes ectodermal dysplasia.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Clinical genetics - 01 Apr 2020

Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, Bailleul-Forestier I,

Link to Pubmed [PMID] – 32022899

Link to DOI – 10.1111/cge.13714

Clin Genet 2020 04; 97(4): 595-600

Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF-κB or the Wnt/β-catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm-derived structures. Wnt/β-catenin pathway requires the lymphoid enhancer-binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing LEF1, associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. We provide further evidence for LEF1 haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype.

https://pubmed.ncbi.nlm.nih.gov/32022899