title: A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.
abstract: We present a male patient with Dejerine-Sottas disease phenotype, who had a small direct tandem duplication of the Po gene. The pathology of the sural nerve showed hypomyelinated fibers with absence of active demyelination and onion-bulb formations composed of two parallel layers of basement membrane, consistent with congenital hypomyelination neuropathy (CHN). However, his clinical features were more severe than those of previously reported CHN patients. A GGCA insertion was identified at the position of nucleotide 560 in the myelin protein zero (Po) gene. This insertional mutation was located in exon 4 coding for the transmembrane domain of the Po gene and caused a shift of reading frame, creating a stop codon. The mutation of the transmembrane domain probably has the largest impact on Po function. The mutation was not identified in both parents.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: N
authors.initials: N
authors.lastname: Kozuka
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D002648:Child; D002880:Chromosomes, Human, Pair 11; D006580:Genetic Carrier Screening; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D018993:Myelin P0 Protein / Q000235:genetics*; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D013497:Sural Nerve / Q000648:ultrastructure
chemical_list: D018993:Myelin P0 Protein