Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Jennifer GarlandJoshi StephenBradley ClassAngela GruberCarla CicconeAaron PoliakChristina P HayesVandana SinghalChristina SlotaJohn PerreaultRalitza GavrilovaJoseph A ShraderPrashant ChittiboinaGalen JoeJohn HeissWilliam A GahlMarjan HuizingNuria CarrilloMay Christine V Malicdan

Published in: Molecular genetics & genomic medicine (2017)

We have identified GNE as one of the genes susceptible to Alu-mediated recombination. Our findings suggest that the deletion may encompass the promoter or another region necessary for GNE expression. In patients with typical manifestations of GNE myopathy and a single GNE variant identified, copy number variant (CNV) analysis may be useful in arriving at the diagnosis.

Keyphrases

copy number
dna methylation
genome wide
mitochondrial dna
late onset
transcription factor
poor prognosis
bioinformatics analysis
oxidative stress
dna repair
muscular dystrophy
early onset