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Neuromuscul Disord. 2017 Apr;27(4):377-381. doi: 10.1016/j.nmd.2017.01.010. Epub 2017 Jan 17.

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

Author information

1
Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, Section of Medical Genetics, University of Genoa, 16132 Genoa, Italy. Electronic address: ageroldi@hotmail.com.
2
UOC Medicina Interna Universitaria "Cesare Frugoni", Centro Sovraziendale Malattie Rare, AOU Consorziale Policlinico Giovanni XXIII, Piazza Giulio Cesare 11, 70124 Bari, Italy.
3
UOC Laboratorio di Genetica Medica Universitaria, D.A.I. di Patologia Diagnostica, Bioimmagini e SanitĂ  Pubblica, AOU Consorziale Policlinico di Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy.
4
Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, Section of Medical Genetics, University of Genoa, 16132 Genoa, Italy; COU Medical Genetics, IRCCS AOU San Martino IST - Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
5
Neurological Unit, Dept of Neuroscience, University Hospital "Santa Maria della Misericordia", Udine, Italy.
6
COU Medical Genetics, IRCCS AOU San Martino IST - Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.

Abstract

MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease. It usually has an autosomal dominant pattern of inheritance, but a few cases of homozygous or compound heterozygous mutations have been described. These patients usually present an earlier onset, more severe phenotype and their inheritance pattern can span from autosomal recessive to semidominant. Here we report two unrelated patients carrying two compound heterozygous MFN2 mutations. Both present a pure axonal neuropathy without any additional features. The first patient presents a mild clinical phenotype with onset in the 2nd decade, while the second patient shows a severe, early onset phenotype with loss of independent ambulation. Only a careful clinical examination as well as neurophysiological and genetic studies allowed us to establish the role and the transmission pattern of the identified variants. We discuss practical consequences of this finding in genetic counseling.

KEYWORDS:

CMT2; Compound heterozygosity; Genetic counseling; Inheritance; MFN2

PMID:
28215760
DOI:
10.1016/j.nmd.2017.01.010
[Indexed for MEDLINE]

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