Novel Partial Deletions, Frameshift and Missense Mutations of CSF1R in Patents with CSF1R-Related Leukoencephalopathy.
Takanobu IshiguroTakuya KonnoNorikazu HaraBin ZhuSatoshi OkadaMamoru ShibataReiko SaikaTakaya KitanoMegumi TokoTomohisa NezuYuka HamaTomoya KawazoeIkuko Takahashi-IwataIchiro YabeKota SatoHayato TakedaShintaro TodaJin NishimiyaToshiyuki TedukaHiroaki NozakiKensaku KasugaAkinori MiyashitaOsamu OnoderaTakeshi IkeuchiPublished in: European journal of neurology (2023)
Our results highlighted the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveal no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R-related leukoencephalopathy.