PMID- 10915613
OWN - NLM
STAT- MEDLINE
DCOM- 20000919
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 67
IP  - 3
DP  - 2000 Sep
TI  - A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 
      10q23.
PG  - 664-71
AB  - During our studies of Romany (Gypsy) families with hereditary motor and sensory 
      neuropathy-Lom, we have identified a large kindred with two independently 
      segregating autosomal recessive neuropathies. The novel disorder, named 
      "hereditary motor and sensory neuropathy-Russe" (HMSNR), presented as a severe 
      disabling form of Charcot-Marie-Tooth disease with prominent sensory loss, 
      moderately reduced motor nerve conduction velocity, and a high threshold for 
      electrical nerve stimulation. A genome scan in two branches of the large kindred 
      detected linkage to the 10q22-q23 region containing the early growth response 2 
      gene (EGR2), a transcription factor with a key role in peripheral nerve 
      myelination. The results of sequence analysis and the detection of an intragenic 
      polymorphism allowed us to exclude EGR2 as the HMSNR gene. Further analysis done 
      using linkage and recombination mapping refined the position of the HMSNR gene to 
      a small interval on 10q23.2, flanked by markers D10S581 and D10S1742, telomeric 
      to EGR2. In this interval, a conserved seven-marker haplotype is shared by all 
      disease chromosomes, suggesting a single founder mutation. The homozygosity 
      region is contained in bacterial-artificial-chromosome contig 1570 of the Sanger 
      Centre physical map and has an estimated physical size of approximately 500 kb.
FAU - Rogers, T
AU  - Rogers T
AD  - Centre for Human Genetics, Edith Cowan University Joondalup Campus, Perth, WA 
      6027, Australia.
FAU - Chandler, D
AU  - Chandler D
FAU - Angelicheva, D
AU  - Angelicheva D
FAU - Thomas, P K
AU  - Thomas PK
FAU - Youl, B
AU  - Youl B
FAU - Tournev, I
AU  - Tournev I
FAU - Gergelcheva, V
AU  - Gergelcheva V
FAU - Kalaydjieva, L
AU  - Kalaydjieva L
LA  - eng
SI  - GENBANK/AF139463
SI  - GENBANK/J04076
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20000727
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Early Growth Response Protein 2
MH  - Female
MH  - Founder Effect
MH  - Genes, Recessive/*genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Genetic/genetics
MH  - Transcription Factors/*genetics
PMC - PMC1287526
EDAT- 2000/08/01 11:00
MHDA- 2000/09/23 11:01
PMCR- 2001/03/01
CRDT- 2000/08/01 11:00
PHST- 2000/05/30 00:00 [received]
PHST- 2000/07/07 00:00 [accepted]
PHST- 2000/08/01 11:00 [pubmed]
PHST- 2000/09/23 11:01 [medline]
PHST- 2000/08/01 11:00 [entrez]
PHST- 2001/03/01 00:00 [pmc-release]
AID - S0002-9297(07)63253-4 [pii]
AID - 001963 [pii]
AID - 10.1086/303053 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2000 Sep;67(3):664-71. doi: 10.1086/303053. Epub 2000 Jul 27.