A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (theta) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266.

[1]  H. Hartung,et al.  Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. , 2003, American journal of human genetics.

[2]  J. Lupski,et al.  Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy , 2002, Nature Genetics.

[3]  O. Evgrafov,et al.  A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 , 2001, European Journal of Human Genetics.

[4]  Robert H. Brown,et al.  SPTLC1 is mutated in hereditary sensory neuropathy, type 1 , 2001, Nature Genetics.

[5]  S. Brahmbhatt,et al.  Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I , 2001, Nature Genetics.

[6]  Mark A. Levenstien,et al.  Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. , 2000, JAMA.

[7]  O. Evgrafov,et al.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. , 2000, American journal of human genetics.

[8]  J. Pouliot,et al.  Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes. , 1999, Science.

[9]  D. Newman,et al.  Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. , 1999, Genomics.

[10]  M. Devoto,et al.  Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. , 1999, American journal of human genetics.

[11]  S. Mirski,et al.  Structural organization of the human TOP2A and TOP2B genes. , 1998, Gene.

[12]  A. Burgin,et al.  A eukaryotic enzyme that can disjoin dead-end covalent complexes between DNA and type I topoisomerases. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[13]  V. Sheffield,et al.  Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). , 1996, Human molecular genetics.

[14]  J. Vance,et al.  Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. , 1996, American journal of human genetics.

[15]  A. Cherryson,et al.  The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3 , 1996, Nature Genetics.

[16]  J. Ivanovich,et al.  Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. , 1995, American Journal of Human Genetics.

[17]  R. Irwin,et al.  Chronic cough due to gastroesophageal reflux. Clinical, diagnostic, and pathogenetic aspects. , 1993, Chest.

[18]  M. Pericak-Vance,et al.  Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. , 1993, Genomics.

[19]  I. Ormerod,et al.  Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. , 1993, Journal of Neurology Neurosurgery & Psychiatry.

[20]  A. Harris,et al.  Isolation of cDNA clones encoding the beta isozyme of human DNA topoisomerase II and localisation of the gene to chromosome 3p24. , 1992, Nucleic acids research.

[21]  D. Housman,et al.  The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A , 1992, Nature Genetics.

[22]  R. Irwin,et al.  Chronic cough. The spectrum and frequency of causes, key components of the diagnostic evaluation, and outcome of specific therapy. , 1990, The American review of respiratory disease.

[23]  R. Irwin,et al.  Chronic cough as the sole presenting manifestation of gastroesophageal reflux. , 1989, The American review of respiratory disease.

[24]  R. Poe,et al.  Chronic persistent cough. Experience in diagnosis and outcome using an anatomic diagnostic protocol. , 1989, Chest.

[25]  A. Harris,et al.  Overproduction of topoisomerase II in an ataxia telangiectasia fibroblast cell line: comparison with a topoisomerase II-overproducing hamster cell mutant. , 1989, Nucleic acids research.

[26]  R. Jones,et al.  Prevalence of symptoms of dyspepsia in the community. , 1989, BMJ.

[27]  T. Hall,et al.  Familial gastroesophageal reflux and development of Barrett's esophagus. , 1985, Annals of internal medicine.

[28]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[29]  S. M. Sumi,et al.  Genetic linkage evidence for heterogeneity in Charcot‐Marie‐Tooth neuropathy (HMSN type I) , 1983, Annals of neurology.

[30]  D. Castell,et al.  Symptomatic gastroesophageal reflux: Incidence and precipitating factors , 1976, The American Journal of Digestive Diseases.

[31]  Williams Es.  Letter: Awareness during anaesthesia. , 1974, The Lancet.

[32]  E. Hicks.  HEREDITARY PERFORATING ULCER OF THE FOOT. , 1922 .

[33]  A. Ing,et al.  Pathogenesis of chronic persistent cough associated with gastroesophageal reflux. , 1994, American journal of respiratory and critical care medicine.