ArticleAmerican journal of human genetics2000
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Journal of applied genetics · 2013Article
- A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).European journal of human genetics : EJHG · 2009Article
- Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death.Mammalian genome : official journal of the International Mammalian Genome Society · 2009Article
- Diagnosis of Charcot-Marie-Tooth disease.Journal of biomedicine & biotechnology · 2009Review
- Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.American journal of human genetics · 2007Article
- Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Mutation history of the roma/gypsies.American journal of human genetics · 2004Article
- The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.Current neurology and neuroscience reports · 2002Review
- Origins and divergence of the Roma (gypsies).American journal of human genetics · 2001Article
- Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.American journal of human genetics · 2001Article
- Genetic studies of the Roma (Gypsies): a review.BMC medical genetics · 2001Article
- A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.American journal of human genetics · 2001Article
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8 authors.
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Abstract
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.
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