Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Tomoko HorinouchiKandai NozuTomohiko YamamuraShogo MinamikawaTakashi OmoriKeita NakanishiJunya FujimuraAkira AshidaMineaki KitamuraMitsuhiro KawanoWataru ShimabukuroChizuko KitabayashiAya ImafukuKeiichi TamagakiKoichi KameiKenjirou OkamotoShuichiro FujinagaMasafumi OkaToru IgarashiAkinori MiyazonoEmi SawanoboriRika FujimaruKoichi NakanishiYuko ShimaMasafumi MatsuoMing Juan YeYoshimi NozuNaoya MorisadaHiroshi KaitoKazumoto Iijima

Published in: Journal of the American Society of Nephrology : JASN (2018)

We report unpredictable atypical splicing in the COL4A5 gene in male patients with XLAS and reveal that renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities. Our results suggest that splicing modulation should be explored as a therapy for XLAS with truncating mutations.

Keyphrases

genome wide
gene expression
copy number
case report
single cell
dna methylation
transcription factor
real time pcr