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Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation
Author(s) -
Valentijn Linda J.,
Ouvrier Robert A.,
Van Den Bosch Norbert H. A.,
Bolhuis Pieter A.,
Baas Frank,
Nicholson Garth A.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050110
Subject(s) - biology , point mutation , mutation , genetics , exon , gene duplication , microbiology and biotechnology , gene
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 C 85 →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.© 1995 wiley‐Liss, Inc.