PMID- 10330345
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 6
DP  - 1999 Jun
TI  - A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth 
      disease and deafness.
PG  - 1580-93
AB  - Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the 
      genetically heterogeneous group of CMT disorders. Molecular studies in a large
      family with autosomal dominant CMT and deafness have not been reported. The
      present molecular study involves a family with progressive features of CMT and
      deafness, originally reported by Kousseff et al. Genetic analysis of 70
      individuals (31 affected, 28 unaffected, and 11 spouses) revealed linkage to
      markers on chromosome 17p11.2-p12, with a maximum LOD score of 9.01 for marker
      D17S1357 at a recombination fraction of .03. Haplotype analysis placed the
      CMT-deafness locus between markers D17S839 and D17S122, a approximately 0.6-Mb
      interval. This critical region lies within the CMT type 1A duplication region and
      excludes MYO15, a gene coding an unconventional myosin that causes a form of
      autosomal recessive deafness called DFNB3. Affected individuals from this family 
      do not have the common 1.5-Mb duplication of CMT type 1A. Direct sequencing of
      the candidate peripheral myelin protein 22 (PMP22) gene detected a unique G-->C
      transversion in the heterozygous state in all affected individuals, at position
      248 in coding exon 3, predicted to result in an Ala67Pro substitution in the
      second transmembrane domain of PMP22.
FAU - Kovach, M J
AU  - Kovach MJ
AD  - Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois 
      University School of Medicine, Springfield, IL 62794-9658, USA.
FAU - Lin, J P
AU  - Lin JP
FAU - Boyadjiev, S
AU  - Boyadjiev S
FAU - Campbell, K
AU  - Campbell K
FAU - Mazzeo, L
AU  - Mazzeo L
FAU - Herman, K
AU  - Herman K
FAU - Rimer, L A
AU  - Rimer LA
FAU - Frank, W
AU  - Frank W
FAU - Llewellyn, B
AU  - Llewellyn B
FAU - Jabs, E W
AU  - Jabs EW
FAU - Gelber, D
AU  - Gelber D
FAU - Kimonis, V E
AU  - Kimonis VE
LA  - eng
GR  - RR00722/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Primers)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Charcot-Marie-Tooth Disease/*genetics/physiopathology
MH  - DNA Primers
MH  - Deafness/*genetics/physiopathology
MH  - Female
MH  - Genetic Linkage
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Myelin Proteins/chemistry/*genetics
MH  - Pedigree
MH  - *Point Mutation
PMC - PMC1377901
EDAT- 1999/05/20 06:00
MHDA- 2000/03/21 09:00
CRDT- 1999/05/20 06:00
PHST- 1999/05/20 06:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/05/20 06:00 [entrez]
AID - S0002-9297(07)63660-X [pii]
AID - 10.1086/302420 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420.