title: HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
abstract: Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p.Arg148* mutation inherited from both parents by the autosomal recessive mechanism. But in one case, the recessive mutation was inherited only from one parent (father) and unmasked owing to an uniparental isodisomy of the entire chromosome eight. The inherited peripheral neuropathy owing to an isodisomy of the whole chromosome pointed to an interesting, less frequent possibility of recessive disease and complications with genetic counseling.
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Dana
authors.initials: D
authors.lastname: Šafka Brožková
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Jaroslava
authors.initials: J
authors.lastname: Paulasová Schwabová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Neupauerová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Sabová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Marcela
authors.initials: M
authors.lastname: Krůtová
authors.affiliation: Pediatric Neurology, Matice školské 17, České Budejovice, Czech Republic.
authors.forename: Vladimír
authors.initials: V
authors.lastname: Peřina
authors.affiliation: Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
authors.forename: Marie
authors.initials: M
authors.lastname: Trková
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Laššuthová
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Seeman
mesh_terms: D000328:Adult; D017668:Age of Onset; D018797:Cell Cycle Proteins / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8 / Q000737:chemistry; D018153:Czech Republic; D003638:Deafness / Q000503:physiopathology; D005260:Female; D018703:Founder Effect; D015870:Gene Expression; D005808:Genes, Recessive; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D012035:Refsum Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D006178:Romani People; D024182:Uniparental Disomy; D000099259:N-myc Downstream-Regulated Gene 1 Protein
chemical_list: D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D000099259:N-myc Downstream-Regulated Gene 1 Protein