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

We 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 whol...

Descripción completa

Detalles Bibliográficos
Autores principales: Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758439/
https://www.ncbi.nlm.nih.gov/pubmed/34121014
http://dx.doi.org/10.2169/internalmedicine.7463-21
Descripción
Sumario:We 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.

Ejemplares similares