Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation
- 1 January 1995
- journal article
- case report
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (1), 76-80
- https://doi.org/10.1002/humu.1380050110
Abstract
We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine‐Sottas neuropathy. Single‐stranded conformation analysis of PCR‐amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C85→A that results in an amino acid substitution Hisl2Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Déjérine‐Sottas neuropathy can be due to dominant single base substitutions.Keywords
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