MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations

Intern Med. 2021 Jun 12. doi: 10.2169/internalmedicine.7463-21. Online ahead of print.ABSTRACTWe herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third daughter, and his deceased maternal grandfather all had symptoms of CMT and a visual impairment (either cataracts or severe astigmatism). On whole-exome sequencing for the proband having CMT and congenital cataracts, we identified a c.314C>T (p.Thr105Met) mutation in MFN2, but no mutation in the causative genes associated with cataracts. This missense mutation in MFN2 co-segregated with CMT and the atypical ocular manifestations in this family. The findings of this study might help to expand the clinical phenotype of heterogeneous MFN2-related CMT.PMID:34121014 | DOI:10.2169/internalmedicine.7463-21

Source: Internal Medicine - June 14, 2021 Category: Internal Medicine Authors: Haitian Nan Takanori Hata Toko Fukao Toshimichi Fukao Wanjing Chen Takafumi Kurita Takahiro Natori Yoshihisa Takiyama Source Type: research