title: Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.
abstract: At the time of its first description in 2004, MFN2 was considered the most frequently mutated gene in hereditary motor and sensory neuropathy type 2 (HMSN 2). However recent studies have shown that the frequency of MFN2 gene mutations in HMSN II patients is surprisingly low. To date, no systematic studies devoted to HMSN IIa in Poland have been carried out. In this study, we searched for MFN2 gene mutations in Polish patients representing the population of nearly 40 million. We decided to include a wide spectrum of clinical phenotypes in the study, proving able to detect, in a group of 67 affected patients: 1) 3 pathogenic mutations; 2) 3 sequence variants of unknown pathogenic status; 3) 9 rare MFN2 gene sequence variants; 4) 6 common polymorphisms. The frequency of MFN2 gene mutations in the whole group of patients is 4.5%. Due to the high frequency of MFN2 gene sequence variants within single patients we could not definitely exclude the cumulative effect of these contributing to the HMSN II phenotype. The MFN2 gene should therefore be considered in Polish HMSN II patients, though it is still not possible to determine its position in HMSN II molecular diagnostics.
authors.affiliation: Mossakowski Medical Research Centre Polish Academy of Sciences, Neuromuscular Unit, Warsaw, Poland, k.kotruchow@gmail.com.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotruchow
authors.affiliation: Mossakowski Medical Research Centre Polish Academy of Sciences, Neuromuscular Unit, Warsaw, Poland.
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
authors.affiliation: Mossakowski Medical Research Centre Polish Academy of Sciences, Neuromuscular Unit, Warsaw, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000235:genetics*; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011044:Poland
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human