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
- MeSH
- Charcotova-Marieova-Toothova nemoc genetika patofyziologie MeSH
- demyelinizační nemoci genetika MeSH
- diagnostické techniky a postupy MeSH
- financování organizované MeSH
- genetické testování MeSH
- kojenec MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- předškolní dítě MeSH
- rodokmen MeSH
- Romové genetika MeSH
- sekvence nukleotidů MeSH
- sekvenční delece genetika MeSH
- věk při počátku nemoci MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Mutations in the ganglioside-induced differentiation associated protein-1 gene (GDAP1) cause autosomal recessive (AR) demyelinating or axonal Charcot-Marie-Tooth neuropathy (CMT). In order to establish the spectrum and frequency of GDAP1 mutations in Czech population, we sequenced GDAP1 in 74 Czech patients from 69 unrelated families with early-onset demyelinating or axonal CMT compatible with AR inheritance. We identified three isolated patients with GDAP1 mutations in both alleles. In one additional sporadic and one familial case, the second pathogenic mutation remained unknown. Overall, we detected two different mutations, a novel R191X nonsense and a L239F missense mutation. L239F previously described in a German-Italian family is a prevalent mutation in Czech population and we give evidence for its common ancestral origin. All Czech GDAP1 patients developed involvement of all four limbs evident by the end of second decade, except for one isolated patient showing very slow disease progression. All patients displayed axonal type of neuropathy.
- MeSH
- alely MeSH
- algoritmy MeSH
- bodová mutace genetika MeSH
- Charcotova-Marieova-Toothova nemoc etnologie genetika patofyziologie MeSH
- dítě MeSH
- dospělí MeSH
- elektrofyziologie MeSH
- financování organizované MeSH
- frekvence genu MeSH
- haplotypy MeSH
- lidé středního věku MeSH
- lidé MeSH
- missense mutace genetika MeSH
- mladiství MeSH
- nesmyslný kodon genetika MeSH
- proteiny nervové tkáně genetika MeSH
- senioři MeSH
- svalová slabost patofyziologie MeSH
- věk při počátku nemoci MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Geografické názvy
- Česká republika MeSH
