Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Dec 15;60(24):3969-3974.
doi: 10.2169/internalmedicine.7463-21. Epub 2021 Jun 12.

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

Haitian Nan  1 , Takanori Hata  1 , Toko Fukao  1 , Toshimichi Fukao  2 , Wanjing Chen  3 , Takafumi Kurita  1 , Takahiro Natori  1 , Yoshihisa Takiyama  1
Affiliations
Case Reports

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

Haitian Nan et al. Intern Med. .

Abstract

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.

Keywords: Charcot-Marie-Tooth disease; MFN2; astigmatism; cataracts; visual impairment.

PubMed Disclaimer

Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure.
Figure.
A: The pedigree of the present family. The proband is indicated (arrow). Squares indicate men, circles women, and slashes deceased individuals, while shaded (black) symbols indicate individuals with symptoms of CMT and visual impairment, while unshaded ones show individuals without symptoms of CMT or visual impairment. Individuals evaluated both clinically and genetically are denoted by asterisks. B, C: Brain MRI of the proband showed mild cerebellar atrophy and mild enlargement of the fourth ventricle. R and L indicate right and left. D: Sanger sequencing revealed the c.314C>T mutation in MFN2 to be in a heterozygous state in the proband, his mother, and his youngest daughter. E: The c.314C>T mutation in MFN2 was not detected in the proband’s father, his wife, or his younger brother.
See this image and copyright information in PMC

References

    1. Chung KW, Kim SB, Park KD, et al. . Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129: 2103-2118, 2006. - PubMed
    1. Züchner S, Vance JM. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 8: 63-74, 2006. - PubMed
    1. Stuppia G, Rizzo F, Riboldi G, et al. . MFN2-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives. J Neurol Sci 356: 7-18, 2015. - PubMed
    1. Feely SM, Laura M, Siskind CE, et al. . MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 76: 1690-1696, 2011. - PMC - PubMed
    1. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65: 197-204, 2005. - PubMed

Publication types