PMID- 8698335
OWN - NLM
STAT- MEDLINE
DCOM- 19960905
LR  - 20231213
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 98
IP  - 2
DP  - 1996 Aug
TI  - X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the 
      connexin32 gene.
PG  - 172-5
AB  - X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the 
      Xq13 region. Subsequently, several mutations that could account for CMTX have 
      been detected in the coding part of the connexin32 (Cx32) gene, which is located 
      within this region. In order to develop more specific diagnostic tools, we have 
      begun a systematic screening of families with dominant CMTX for mutations in the 
      coding region of the Cx32 gene. This report describes a study of ten families and 
      different mutations segregating with the disease were detected in five of them. 
      In addition to the previously reported Arg22stop and Arg215Trp substitutions, 
      three novel mutations are described, including two different missense mutations 
      at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation at codon Trp133. 
      The identification of new CMTX-causing mutations is a critical step for carrier 
      detection and presymptomatic diagnosis, and should provide essential information 
      on the structure-function relationship of Cx32 in vitro as well as in vivo.
FAU - Ressot, C
AU  - Ressot C
AD  - Laboratoire de Neurogenetique Moleculaire, URA 1488 CNRS, Universite de Paris VI, 
      France.
FAU - Latour, P
AU  - Latour P
FAU - Blanquet-Grossard, F
AU  - Blanquet-Grossard F
FAU - Sturtz, F
AU  - Sturtz F
FAU - Duthel, S
AU  - Duthel S
FAU - Battin, J
AU  - Battin J
FAU - Corbillon, E
AU  - Corbillon E
FAU - Ollagnon, E
AU  - Ollagnon E
FAU - Serville, F
AU  - Serville F
FAU - Vandenberghe, A
AU  - Vandenberghe A
FAU - Dautigny, A
AU  - Dautigny A
FAU - Pham-Dinh, D
AU  - Pham-Dinh D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Codon)
RN  - 0 (Codon, Nonsense)
RN  - 0 (Connexins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Codon/genetics
MH  - Codon, Nonsense/genetics
MH  - Connexins/chemistry/*genetics
MH  - DNA/genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - X Chromosome/*genetics
MH  - Gap Junction beta-1 Protein
EDAT- 1996/08/01 00:00
MHDA- 1996/08/01 00:01
CRDT- 1996/08/01 00:00
PHST- 1996/08/01 00:00 [pubmed]
PHST- 1996/08/01 00:01 [medline]
PHST- 1996/08/01 00:00 [entrez]
AID - 10.1007/s004390050183 [doi]
PST - ppublish
SO  - Hum Genet. 1996 Aug;98(2):172-5. doi: 10.1007/s004390050183.