Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.

Autor:	Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia., Baryshnikova NV; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Limited, Moscow, Russia., Ilinskaya AY; Department of Science, Genotek Limited, Moscow, Russia., Kim AA; Department of Science, Genotek Limited, Moscow, Russia., Plotnikov NA; Department of Science, Genotek Limited, Moscow, Russia., Pogodina NA; Department of Science, Genotek Limited, Moscow, Russia., Surkova EI; Department of Science, Genotek Limited, Moscow, Russia., Shatalov PA; Department of Science, Genotek Limited, Moscow, Russia.; Department of Molecular Genetic Service, National Medical Research Centre of Radiology of the Ministry of Health of the Russian Federation, Obninsk, Russia., Ilinsky VV; Department of Science, Genotek Limited, Moscow, Russia.
Jazyk:	angličtina
Zdroj:	The Journal of international medical research [J Int Med Res] 2022 Dec; Vol. 50 (12), pp. 3000605221139718.
DOI:	10.1177/03000605221139718
Abstrakt:	Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 ( PMP22) , myelin protein zero ( MPZ ), gap junction protein beta1 ( GJB1 ) and mitofusin2 ( MFN2 ). This current case report describes the clinical and genetic characteristics of a 6-year-old male proband. A physical examination revealed muscular hypotonia. He started walking on his own at 18 months. A nerve conduction study with needle electromyography revealed conduction block. A novel MPZ mutation (c.398C > T, p.Pro133Leu) was revealed in the proband. This mutation was also found in the 32-year-old father of the proband. The father had had deformity of the feet and distal muscle weakness since childhood. The novel p.Pro133Leu pathogenic mutation was responsible for early onset but slowly progressive CMT1B. We assume that this site is an intolerant to change region in the MPZ gene. This variant in the MPZ gene is an important contributor to hereditary neuropathy with reduced nerve conduction velocity in the Russian population. This case highlights the importance of whole exome sequencing for a proper clinical diagnosis of CMT associated with a mutation in the MPZ gene.
Databáze:	MEDLINE
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