A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
Language English Country England, Great Britain Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
18410371
DOI
10.1111/j.1468-1331.2008.02104.x
PII: ENE2104
Knihovny.cz E-resources
- MeSH
- Charcot-Marie-Tooth Disease genetics physiopathology MeSH
- Demyelinating Diseases genetics MeSH
- Genetic Testing MeSH
- Infant MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Child, Preschool MeSH
- Pedigree MeSH
- Roma genetics MeSH
- Base Sequence MeSH
- Sequence Deletion genetics MeSH
- Age of Onset MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Membrane Proteins MeSH
- periaxin MeSH Browser
BACKGROUND: Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. To date, 10 non-sense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine-Sottas neuropathy or slow-progressive demyelinating CMT. METHODS: We sequenced 59 patients from 55 Czech families including four unrelated patients of Romani (Gypsy) origin with early-onset CMT displaying decreased nerve conduction velocities. RESULTS: We identified a novel homozygous mutation c.3286_3356del71 (K1095fsX18) in one Romani patient showing very slow disease progression. Amongst non-Romani Czech CMT patients, PRX mutations have been proven to be very rare.
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