De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Daphne LehallePierre VabresArthur SorlinTatjana BierhalsMagali AvilaVirginie CarmignacMartin ChevarinErin TortiYuichi AbeTobias BartolomaeusJill Clayton-SmithBenjamin CognéIvon CuscoLaurence DuplombEveline De BontYannis DuffourdFloor DuijkersOrly ElpelegAviva FattalDavid GenevièveMaria J Guillen SacotoAnne GuimierDavid J HarrisMaja HempelBertrand IsidorThibaud JouanPaul KuentzEriko KoshimizuKlaske LichtenbeltValerie Loik RameyMiriam MaikSakoto MiyakateYoshiko MurakamiLaurent PasquierHelio PedroLaurie SimoneKrista Sondergaard-SchatzJudith St-OngeJulien ThevenonIrene ValenzuelaRami Abou JamraKoen van GassenMieke M van HaelstSilvana van KoningsbruggenEdgard VerduraChrista Whelan HabelaPia ZacherJean-Baptiste RivièreChristel Thauvin-RobinetJoerg BetschingerLaurence Olivier-FaivrePublished in: Journal of medical genetics (2020)
This series further delineates the specific storage disorder-like phenotype with PM ascribed to de novo TFE3 mutation in exons 3 and 4. It confirms the identification of a novel X-linked human condition associated with mosaicism and dysregulation within the mechanistic target of rapamycin (mTOR) pathway, as well as a link between lysosomal signalling and human development.