GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

Taiga InookaTakaaki HayashiKazushige TsunodaKazuki KuniyoshiHiroyuki KondoKei MizobuchiAkiko SugaTakeshi IwataKazutoshi YoshitakeMineo KondoKensuke GotoJunya OtaTaro KominamiKoji M NishiguchiShinji Ueno

Published in: Retina (Philadelphia, Pa.) (2024)

The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.

Keyphrases

genome wide
copy number
genome wide identification
bioinformatics analysis
dna methylation
transcription factor
genome wide analysis