Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Zineb SbihiKay TanitaCamille BacheletChristine BoleFabienne Jabot-HaninFrederic ToresMarc Le LochRadi KhodrAkihiro HoshinoChristelle LenoirMatias OleastroMariana VillaLucia SpossitoEmma PrietoSilvia DanielianErika BrunetCapucine PicardTakashi TagaShimaa Said Mohamed Ali AbdrabouTakeshi IsodaMasafumi YamadaAlejandro PalmaHirokazu KaneganeSylvain Latour

Published in: Journal of clinical immunology (2022)

These results identify a key promoter sequence contained in the first non-coding exon of XIAP. Importantly, this study highlights that sequencing of the non-coding exons that are not currently captured by WES should be considered in the genetic diagnosis when no variation is found in coding exons.

Keyphrases

dna methylation
genome wide
gene expression
copy number
single cell
dna repair
oxidative stress