De novo mutation of Charcot-Marie-Tooth disease type 1A.

Abstract

Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on clinical, electrophysiologic, and molecular grounds. Motor nerve conduction velocity (MCV) of the patient was 10.9 m/s in the ulnar nerve. The MCV of both his parents was within the normal range. Southern blot analysis of BamHI digestion showed reduced intensity rate of SF85/PMP-22, indicating CMT 1A duplication. Haplotype analysis with pVAW4093a, demonstrated that the de novo CMT 1A duplication was of paternal origin.

• Authors: N Tachi, N Kozuka, K Ohya, S Chiba
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 17 Issue 1 Pg. 67-9 (Jul 1997) ISSN: 0887-8994 [Print] United States
• PMID: 9308980 (Publication Type: Case Reports, Journal Article)

Chemical References

• Myelin Proteins
• PMP22 protein, human

Topics

• Blotting, Southern
• Charcot-Marie-Tooth Disease (genetics)
• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosomes, Human, Pair 17
• DNA Mutational Analysis
• Genes, Dominant (genetics)
• Genetic Carrier Screening
• Humans
• Infant
• Male
• Mutation
• Myelin Proteins (genetics)
• Pedigree