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: N Tachi, N Kozuka, K Ohya, S Chiba, S Yamashita
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 156 Issue 2 Pg. 167-71 (Apr 01 1998) ISSN: 0022-510X [Print] Netherlands
• PMID: 9588852 (Publication Type: Case Reports, Journal Article)

Chemical References

• Myelin P0 Protein

Topics

• Child
• Chromosomes, Human, Pair 11
• Genetic Carrier Screening
• Hereditary Sensory and Motor Neuropathy (genetics, pathology)
• Humans
• Male
• Mutagenesis, Insertional
• Myelin P0 Protein (genetics)
• Phenotype
• Repetitive Sequences, Nucleic Acid (genetics)
• Sural Nerve (ultrastructure)