PT  - JOURNAL ARTICLE
AU  - E Nelis
AU  - P De Jonghe
AU  - E De Vriendt
AU  - P I Patel
AU  - J J Martin
AU  - C Van Broeckhoven
TI  - Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
AID  - 10.1136/jmg.35.7.590
DP  - 1998 Jul 01
TA  - Journal of Medical Genetics
PG  - 590--593
VI  - 35
IP  - 7
4099  - http://jmg.bmj.com/content/35/7/590.short
4100  - http://jmg.bmj.com/content/35/7/590.full
SO  - J Med Genet1998 Jul 01; 35
AB  - We analysed the nerve specific promoter of the peripheral myelin protein 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Marie-Tooth type 1 disease (CMT1) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies (HNPP). In these patients no duplication/deletion nor a mutation in the coding region of the CMT1/ HNPP genes was detected. In one autosomal dominant CMT1 patient, we identified a base change in the non-coding exon 1A of PMP22 which, however, did not cosegregate with the disease in the family. This study indicates that mutations in the nerve specific PMP22 promoter and 5' untranslated exon will not be a common genetic cause of CMT1A and HNPP.