title: Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.
abstract: Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Mikołaj
authors.initials: M
authors.lastname: Łaniewski-Wołłk
authors.forename: Monika
authors.initials: M
authors.lastname: Gos
authors.forename: Andrzej
authors.initials: A
authors.lastname: Koziarski
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szpecht-Potocka
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational