{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:10:06Z","timestamp":1760721006818,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:p>Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with point mutations in the PMP-22 gene. In some families linkage has been found with markers located on chromosome 1q21-q25 (CMT1B) and more recently mutations have been identified in the P0 gene. We analysed an extended CMT1 pedigree (CMT-B) without the CMT1A duplication. Significant positive linkage with chromosome 1 indicated that this family is of the CMT1B subtype. Sequencing of the candidate gene P0 located in chromosome band 1q21-q23 showed a C to A point mutation at position 446 in exon 3 resulting in an Asp134Glu substitution. Since the P0 mutation cosegregated with CMT1 disease we suggest that this mutation is the primary genetic cause of CMT1B in family CMT-B.<\/jats:p>","DOI":"10.1136\/jmg.31.10.811","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"811-815","source":"Crossref","is-referenced-by-count":26,"title":["Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B."],"prefix":"10.1136","volume":"31","author":[{"given":"E","family":"Nelis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Timmerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"De Jonghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Muylle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Van Broeckhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,10,1]]},"reference":[{"key":"ref_1","first-page":"1094","article-title":"Hereditary motor and sensory neuropathies","author":"Dyck, P.J.; Chance, P.; Lebo, R.; Carney, J.A.","year":"1993","unstructured":"Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Penipheral neuropathy. 3rd ed. Philadelphia: Saunders, 1993:1094-136.","edition":"3rd ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases - a world survey","volume":"1","author":"Emery, A.E.H.","year":"1991","unstructured":"Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromusc Dis 1991; 1:19-29.","journal-title":"Neuromusc Dis"},{"key":"ref_3","first-page":"219","article-title":"DNA duplication associated with Charcot-Marie-Tooth disease type 1A","volume":"66","author":"Lupski, JR, Montes de Oca-Luna; R, Slaugenhaupt; S.","year":"1991","unstructured":"Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. CeU 1991;66:219-39.","journal-title":"CeU"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0960-8966(91)90055-W","article-title":"CharcotMarie-Tooth neuropathy type la (CMTla) is most likely caused by a duplication in chromosome l7pll.2","volume":"1","author":"Raeymaekers, P.; Timmerman, V.; Nelis, E.","year":"1991","unstructured":"Raeymaekers P, Timmerman V, Nelis E, et al. CharcotMarie-Tooth neuropathy type la (CMTla) is most likely caused by a duplication in chromosome l7pll.2. Neuromusc Dis 1991;1:93-7.","journal-title":"Neuromusc Dis"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/0168-9525(94)90214-3","article-title":"Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease","volume":"10","author":"Patel, P.I.; Lupski, JR","year":"1994","unstructured":"Patel PI, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 1994;10: 128-33.","journal-title":"Trends Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng1292-288","article-title":"Identical point mutations of PMP-22 in Trembler-J mouse and CharcotMarie-Tooth disease type IA","volume":"2","author":"Valentijn, U.; Baas, F.; Wolterman, R.A.","year":"1992","unstructured":"Valentijn U, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and CharcotMarie-Tooth disease type IA. Nature Genet 1992;2:288-91.","journal-title":"Nature Genet"},{"key":"ref_7","first-page":"515","article-title":"Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum Molec Genet","volume":"3","author":"Nelis, E.; Timmerman, V.; De Jonghe, P.; Van Broeckhoven, C.","year":"1994","unstructured":"Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C. Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum Molec Genet 1994;3:515-16."},{"key":"ref_8","first-page":"388","article-title":"Evidence for linkage of CharcotMarie-Tooth neuropathy to the Duffy locus on chromosome 1","volume":"34","author":"Bird, T.D.; Ott, J.; Giblett, E.R.","year":"1982","unstructured":"Bird TD, Ott J, Giblett ER. Evidence for linkage of CharcotMarie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 1982;34:388-94.","journal-title":"Am J Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00204921","article-title":"Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcy receptor gene region","volume":"88","author":"Lebo, R.V.; Chance, P.F.; Dyck, P.J.","year":"1991","unstructured":"Lebo RV, Chance PF, Dyck PJ, et al. Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcy receptor gene region. Hum Genet 1991;88:1-12.","journal-title":"Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1093\/hmg\/1.8.613","article-title":"Construction of a physical map of mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA","volume":"1","author":"Oakey, R.J.; Watson, M.L.; Seldin, M.","year":"1992","unstructured":"Oakey RJ, Watson ML, Seldin M. Construction of a physical map of mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum Molec Genet 1992;1:613-20.","journal-title":"Hum Molec Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng0993-31","article-title":"Charcot-Marie-Tooth neuropathy type lB is associated with mutations of the myelin P0 gene","volume":"5","author":"Hayasaka, K.; Himoro, M.; Sato, W.","year":"1993","unstructured":"Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type lB is associated with mutations of the myelin P0 gene. Nature Genet 1993;5:31-4.","journal-title":"Nature Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/ng0993-35","article-title":"Deletion of the serine 34 codon from the major peripheral myelin protein P, gene in Charcot-Marie-Tooth disease type lB","volume":"5","author":"Kulkens, T.; Bolhuis, P.A.; Wolterman, R.A.","year":"1993","unstructured":"Kulkens T, Bolhuis PA, Wolterman RA, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P, gene in Charcot-Marie-Tooth disease type lB. Nature Genet 1993;5:35-9.","journal-title":"Nature Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/2.9.1369","article-title":"Mutation ofthe myelin Po gene in Charcot-Marie-Tooth neuropathy type lB","volume":"2","author":"Hayasaka, K.; Takada, G.; Ionasescu, V.","year":"1993","unstructured":"Hayasaka K, Takada G, Ionasescu V. Mutation ofthe myelin Po gene in Charcot-Marie-Tooth neuropathy type lB. Hum Molec Genet 1993;2:1369-72.","journal-title":"Hum Molec Genet"},{"key":"ref_14","first-page":"76","article-title":"The Duffy blood group is linked to the oa-spectrin locus in a large pedigree with autosomal dominant inheritance ofCharcot-Marie-Tooth type 1","volume-title":"Hum Genet","volume":"78","author":"Raeymaekers, P.; Van Broeckhoven, C.; Backhovens, H.","year":"1988","unstructured":"Raeymaekers P, Van Broeckhoven C, Backhovens H, et al. The Duffy blood group is linked to the oa-spectrin locus in a large pedigree with autosomal dominant inheritance ofCharcot-Marie-Tooth type 1. Hum Genet 1988;78:76-8."},{"key":"ref_15","first-page":"460","article-title":"Easy calculations of lod scores and genetic risk on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risk on small computers. Am J Hum Genet 1984;36:460-5.","journal-title":"Am J Hum Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0888-7543(90)90524-X","article-title":"A genetic map ofhuman chromosome 17p","volume":"7","author":"Wright, E.C.; Goldgar, D.E.; Fain, P.R.; Barker, D.F.; Skolninck, M.H.","year":"1990","unstructured":"Wright EC, Goldgar DE, Fain PR, Barker DF, Skolninck MH. A genetic map ofhuman chromosome 17p. Genomics 1990;7: 103-9.","journal-title":"Genomics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1136\/jmg.29.1.5","article-title":"Estimation of the size of the chromosome 17pli.2 duplication in Charcot-Marie-Tooth neuropathy type la","volume":"29","author":"Raeymaekers, P.; Timmennan, V.; Nelis, E.","year":"1992","unstructured":"Raeymaekers P, Timmennan V, Nelis E, et al. Estimation of the size of the chromosome 17pli.2 duplication in Charcot-Marie-Tooth neuropathy type la (CMT la). J Med Genet 1992;29:5-11.","journal-title":"(CMT la). J Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0692-171","article-title":"The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type IA duplication","volume":"1","author":"Timmerman, V.; Nelis, E.; Van Hul, W.","year":"1992","unstructured":"Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type IA duplication. Nature Genet 1992;1:171-5.","journal-title":"Nature Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/S0006-291X(05)81094-0","article-title":"Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin","volume":"180","author":"Hayasaka, K.; Nanao, K.; Tahara, M.","year":"1991","unstructured":"Hayasaka K, Nanao K, Tahara M, et al. Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin. Biochem Biophys Res Commun 1991;180:515-8.","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.10.811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:51:11Z","timestamp":1760719871000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.10.811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":19,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1994,10,1]]},"published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1136\/jmg.31.10.811"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.10.811","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}