PMID- 7623491
OWN - NLM
STAT- MEDLINE
DCOM- 19950830
LR  - 20171116
IS  - 0025-7753 (Print)
IS  - 0025-7753 (Linking)
VI  - 104
IP  - 17
DP  - 1995 May 6
TI  - [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth 
      disease type 1].
PG  - 648-52
AB  - BACKGROUND: The Charcot-Marie-Tooth (CMT) disease or hereditary motor-sensitive 
      neuropathy (HMSN) is the most frequent hereditary neuropathy. The demyelinated or 
      type 1 form (CMT1) is the most frequently presented, commonly being of a dominant 
      autosomic inheritance. CMT1 is heterogeneous genetically and the subjacent 
      mutation found in most of the cases is a duplication of 1,500 kb in the CMT1A 
      locus of chromosome 17p11.2. The aim of the present study was to determine the 
      prevalence of CMT1A duplication in patients with CMT1 and evaluate its usefulness 
      as a biological diagnostic marker. METHODS: The study was carried out in a group 
      of patients with HMSN who were not related, and were distributed according to the 
      following diagnostic categories: CMT1 (n = 49), CMT2 (n = 9), untyped CMT (n = 
      11) and Dejerine-Sottas (DS) disease (n = 4). To detect three alleles confirming 
      the presence of duplication the DNA of the patients was analyzed with four 
      polymorph markers, VAW409R3a, RM11-GT, VAW412R3HEc and EW401HE localized in the 
      CMT1A locus. RESULTS: CMT1A duplication was found in 68.7% of the patients with 
      CMT1 and in 27.2% of untyped CMT patients. None of the individuals in the CMT2 
      and DS categories showed duplication. Cases pertaining to families with dominant 
      autosomic inheritance and genetically sporadic cases were confirmed to show a 
      high prevalence of duplication, being of 83.3% and 85.7%, respectively. 
      CONCLUSIONS: Duplication of the CMT1A locus is the most prevalent mutation found 
      in Charcot-Marie-Tooth type 1 disease. It is a specific mutation of this disease 
      among the different forms of hereditary motor-sensitive neuropathy. This mutation 
      is useful as a biological marker in the diagnosis of these neuropathies.
FAU - Bort, S
AU  - Bort S
AD  - Unidad de Genetica y Diagnostico Prenatal, Hospital Universitari La Fe, Valencia.
FAU - Sevilla, T
AU  - Sevilla T
FAU - Vilchez, J J
AU  - Vilchez JJ
FAU - Prieto, F
AU  - Prieto F
FAU - Palau, F
AU  - Palau F
LA  - spa
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Diagnostico y prevalencia de la duplicacion del locus CMT1A en la enfermedad de 
      Charcot-Marie-Tooth tipo 1.
PL  - Spain
TA  - Med Clin (Barc)
JT  - Medicina clinica
JID - 0376377
RN  - 0 (Genetic Markers)
RN  - 0 (Molecular Probes)
SB  - IM
EIN - Med Clin (Barc) 1995 Jul 1;105(5):179
GS  - PMP-22
MH  - Alleles
MH  - Charcot-Marie-Tooth Disease/*diagnosis/epidemiology/genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genes, Recessive
MH  - Genetic Carrier Screening
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - Molecular Probes
MH  - Multigene Family
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - Prevalence
EDAT- 1995/05/06 00:00
MHDA- 1995/05/06 00:01
CRDT- 1995/05/06 00:00
PHST- 1995/05/06 00:00 [pubmed]
PHST- 1995/05/06 00:01 [medline]
PHST- 1995/05/06 00:00 [entrez]
PST - ppublish
SO  - Med Clin (Barc). 1995 May 6;104(17):648-52.