PMID- 11438991
OWN - NLM
STAT- MEDLINE
DCOM- 20011212
LR  - 20231213
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 18
IP  - 1
DP  - 2001
TI  - Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: 
      Mutation analysis in a large cohort of Italian families.
PG  - 32-41
AB  - Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary 
      neurological disorder in humans, is characterized by clinical and genetic 
      heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also 
      by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ 
      (myelin protein zero), Cx32 (connexin 32; also called GJB1), and EGR2 (early 
      growth response 2). In this study, we have screened 172 index cases of Italian 
      families in which there was at least one subject with a CMT1 diagnosis for the 
      duplication on 17p11.2 and mutations in these genes. Among 170 informative 
      unrelated patients, the overall duplication frequency was 57.6%. A difference 
      could be observed between the duplication frequency in familial cases (71.6%) and 
      that observed in non-familial cases (36.8%). Among the non-duplicated patients, 
      12 were mutated in Cx32, four in MPZ, two in PMP22, and none in the EGR2. In the 
      non-duplicated cases, the overall point mutation frequency for these genes was 
      25.0%. We describe the mutations identified, and consider possible 
      genotype-phenotype correlation.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Mostacciuolo, M L
AU  - Mostacciuolo ML
AD  - Laboratorio di Genetica Umana, Dipartimento di Biologia, Universita di Padova, 
      Padova, Italy. mlsmst@civ.bio.unipd.it
FAU - Righetti, E
AU  - Righetti E
FAU - Zortea, M
AU  - Zortea M
FAU - Bosello, V
AU  - Bosello V
FAU - Schiavon, F
AU  - Schiavon F
FAU - Vallo, L
AU  - Vallo L
FAU - Merlini, L
AU  - Merlini L
FAU - Siciliano, G
AU  - Siciliano G
FAU - Fabrizi, G M
AU  - Fabrizi GM
FAU - Rizzuto, N
AU  - Rizzuto N
FAU - Milani, M
AU  - Milani M
FAU - Baratta, S
AU  - Baratta S
FAU - Taroni, F
AU  - Taroni F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Connexins)
RN  - 0 (Myelin P0 Protein)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/classification/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cohort Studies
MH  - Connexins/genetics
MH  - DNA Mutational Analysis
MH  - Gene Duplication
MH  - Gene Frequency/genetics
MH  - Genes, Duplicate/*genetics
MH  - Genetic Testing
MH  - Genotype
MH  - Hereditary Sensory and Motor Neuropathy/*genetics
MH  - Humans
MH  - Italy
MH  - Mutation/*genetics
MH  - Myelin P0 Protein/genetics
MH  - Myelin Proteins/genetics
MH  - Phenotype
MH  - Point Mutation/genetics
MH  - Gap Junction beta-1 Protein
EDAT- 2001/07/05 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/07/05 10:00
PHST- 2001/07/05 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/07/05 10:00 [entrez]
AID - 10.1002/humu.1147 [pii]
AID - 10.1002/humu.1147 [doi]
PST - ppublish
SO  - Hum Mutat. 2001;18(1):32-41. doi: 10.1002/humu.1147.