Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)

Article type: Case Report

Authors: Lin, Hsin-Pin^a | Ho, Kwo Wei David^{a; *} | Jerath, Nivedita U.^{a; b}

Affiliations: [a] Department of Neurology, University of Florida, Gainesville, FL, USA | [b] Department of Neurology, University of Iowa, Iowa City, IA, USA

Correspondence: [*] Correspondence to: Kwo Wei David Ho, MD, PhD, Department of Neurology, University of Florida, P.O. Box 100236, Gainesville, FL 32610, USA. Tel.:+1 352-273 5550; E-mail: KwoWei.Ho@neurology.ufl.edu.

Abstract: Mutations in MFN2 cause a range of Charcot–Marie–Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation in MFN2 has been reported for the first time. Here, we report a second family also with a dominantly inherited CMT harboring the same mutation, thereby confirming the pathogenicity of this mutation. Interestingly, the disease onset of this second family is much later than the previously reported cases.

Keywords: Neuromuscular diseases, hereditary sensory and motor neuropathy, Charcot-Marie-Tooth disease, type 2A, MFN2 protein, human, genetic variation, pathogenicity, phenotype

DOI: 10.3233/JND-190384

Journal: Journal of Neuromuscular Diseases, vol. 6, no. 2, pp. 259-261, 2019