{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:19:44Z","timestamp":1761016784362,"version":"build-2065373602"},"reference-count":18,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>X linked lissencephaly and subcortical band heterotopia (XLIS\/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females. Here we report the fine mapping of a breakpoint involved in a de novo X;autosomal balanced translocation (46,XX,t(X;2) (q22.3;p25.1)) previously described in a female with classical lissencephaly. We constructed a complete 490 kb BAC contig around the Xq22.3 breakpoint with 11 novel STSs and isolated three BAC clones spanning the breakpoint. This mapping information and BAC contig will be useful in the detailed characterisation of the XLIS gene and other contiguous genes which may also be involved in brain development or function.<\/jats:p>","DOI":"10.1136\/jmg.35.10.829","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"829-832","source":"Crossref","is-referenced-by-count":5,"title":["Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation."],"prefix":"10.1136","volume":"35","author":[{"given":"N","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D T","family":"Pilz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Fantes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Kittikamron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D H","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1055\/s-2007-979744","article-title":"Lissencephaly and other malformations of cortical development","volume":"26","author":"Dobyns, W.B.; Truwit, C.L.","year":"1995","unstructured":"Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995;26: 132-47.","journal-title":"Neuropediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/(SICI)1098-2779(1996)2:3<118::AID-MRDD1>3.0.CO;2-O","article-title":"Chromosome X and 17-linked lissencephaly (smooth brain) syndromes","volume":"2","author":"Dobyns, W.B.","year":"1996","unstructured":"Dobyns WB. Chromosome X and 17-linked lissencephaly (smooth brain) syndromes. Mental Retardation and Developmental Disabilities Research Reviews 1996;2: 118-21.","journal-title":"Mental Retardation and Developmental Disabilities Research Reviews"},{"key":"ref_3","first-page":"584","article-title":"Clinical and molecular diagnosis of MillerDieker syndrome","volume":"48","author":"Dobyns, W.B.; Curry, C.J.R.; Hoyme, H.E.; Turlington, L.; Ledbetter, D.H.","year":"1991","unstructured":"Dobyns WB, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of MillerDieker syndrome. Am J Hum Genet 1991;48:584-94.","journal-title":"Am J Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1212\/WNL.42.7.1375","article-title":"Causal heterogeneity in isolated lissencephaly","volume":"42","author":"Dobyns, W.B.; Elias, E.R.; Newlin, A.C.; Pagon, R.A.; Ledbetter, D.H.","year":"1992","unstructured":"Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology 1992;42:1375-88.","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1136\/jmg.33.4.319","article-title":"Syndromes with lissencephaly","volume":"33","author":"Pilz, D.T.; Quarrell, O.W.J.","year":"1996","unstructured":"Pilz DT, Quarrell OWJ. Syndromes with lissencephaly. 7 Med Genet 1996;33:319-23.","journal-title":"7 Med Genet"},{"key":"ref_6","first-page":"32","article-title":"FISH analysis in 100 patients with isolated lissencephaly sequence (ILS): LIS) probes increase deletion detection rate","volume":"61","author":"Pilz, D.T.; Macha, M.E.; Precht, K.S.; Dobyns, W.B.; Smith, A.C.M.; Ledbetter, D.H.","year":"1997","unstructured":"Pilz DT, Macha ME, Precht KS, Dobyns WB, Smith ACM, Ledbetter DH. FISH analysis in 100 patients with isolated lissencephaly sequence (ILS): LIS) probes increase deletion detection rate. Am 7 Hum Genet Suppl 1997;61:A32.","journal-title":"Am 7 Hum Genet Suppl"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/hmg\/6.2.147","article-title":"A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17pl3.3","volume":"6","author":"Chong, S.S.; Pack, S.D.; Roschke, A.V.","year":"1997","unstructured":"Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17pl3.3. Hum Mol Genet 1997;6:147-55.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/364717a0","article-title":"Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats","volume":"364","author":"Reiner 0, Carrozzo R, Shen Y","year":"1993","unstructured":"Reiner 0, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-21.","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/6.2.157","article-title":"Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome","volume":"6","author":"C, Lo Nigro; SS, Chong; ACM, Smith; WB, Dobyns; DH, Ledbetter","year":"1997","unstructured":"Lo Nigro C, Chong SS, Smith ACM, Dobyns WB, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 1997;6:157-64.","journal-title":"Hum Mol Genet"},{"key":"ref_10","first-page":"333","article-title":"Mutation analysis in the LIS1 gene of 14 patients with isolated lissencephaly sequence. Am.7 Hum Genet Suppl","volume":"61","author":"Fogli, A.; Lo Nigro, C.; Renieri, A.","year":"1997","unstructured":"Fogli A, Lo Nigro C, Renieri A, et al. Mutation analysis in the LIS1 gene of 14 patients with isolated lissencephaly sequence. Am.7 Hum Genet Suppl 1997;61:A333."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1212\/WNL.47.2.331","article-title":"X-linked malformations of neuronal migration","volume":"47","author":"Dobyns, W.B.; Andermann, E.; Andermann, F.","year":"1996","unstructured":"Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996;47: 331-9.","journal-title":"Neurology"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/6.4.555","article-title":"Linkage and physical mapping of X-linked lissencephaly\/SBH (XLIS): a gene causing neuronal migration defects in human brain","volume":"6","author":"Ross, M.E.; Allen, K.M.; Srivistava, A.K.","year":"1997","unstructured":"Ross ME, Allen KM, Srivistava AK, et al. Linkage and physical mapping of X-linked lissencephaly\/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet 1997;6:555-62.","journal-title":"Hum Mol Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1101\/gr.7.3.210","article-title":"X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content","volume":"7","author":"Nagaraja, R.; MacMillan, S.; Kere, J.","year":"1997","unstructured":"Nagaraja R, MacMillan S, Kere J, et al. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res 1997;7:210-22.","journal-title":"Genome Res"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1006\/geno.1997.4657","article-title":"BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21","volume":"41","author":"Hubert, R.S.; Mitchell, S.; Chen, X.N.","year":"1997","unstructured":"Hubert RS, Mitchell S, Chen XN, et al. BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21. Genomics 1997;41:218-26.","journal-title":"Genomics"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1006\/geno.1997.4897","article-title":"A 1.2-megabase BAC\/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient","volume":"45","author":"Matsumoto, N.; Soeda, E.; Ohashi, H.","year":"1997","unstructured":"Matsumoto N, Soeda E, Ohashi H, et al. A 1.2-megabase BAC\/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. Genomics 1997;45: 11-16.","journal-title":"Genomics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1101\/gr.7.7.673","article-title":"A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb","volume":"7","author":"true","year":"1997","unstructured":"Bouffard G, Idol JR, Braden VV, et al. A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb. Genome Res 1997;7:673-92.","journal-title":"Genome Res"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1101\/gr.7.7.666","article-title":"The mappers' torch song","volume":"7","author":"Yu, J.; Wong, G.K.S.","year":"1997","unstructured":"Yu J, Wong GKS. The mappers' torch song. Genome Res 1997;7:666-8.","journal-title":"Genome Res"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson, J.G.; Allen, K.M.; Fox, J.W.","year":"1998","unstructured":"Gleeson JG, Allen KM, Fox JW, et al. doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-79.","journal-title":"Cell"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.10.829","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:03:09Z","timestamp":1760720589000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.10.829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":18,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1998,10,1]]},"published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1136\/jmg.35.10.829"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.10.829","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}