{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:01:17Z","timestamp":1771002077003,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:p>Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Menkes disease has hitherto been performed by biochemical analysis, based on intracellular accumulation of copper. Cloning the gene opened up the possibility of establishing precise and reliable carrier and prenatal diagnosis by defining the molecular defect. In this report we describe the partial deletion of the Menkes gene in a patient who had inherited the mutation from his phenotypically normal mother. This information enabled us to perform prenatal diagnosis by direct mutation analysis of the mother's sixth pregnancy and we detected the same deletion, indicating that the male fetus was affected. This first prenatal diagnosis of Menkes disease by direct mutation analysis shows some advantages of DNA analysis compared to biochemical diagnosis.<\/jats:p>","DOI":"10.1136\/jmg.31.8.615","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"615-617","source":"Crossref","is-referenced-by-count":29,"title":["First trimester prenatal diagnosis of Menkes disease by DNA analysis."],"prefix":"10.1136","volume":"31","author":[{"given":"Z","family":"T\u00fcmer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"T\u00f8nnesen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"B\u00f6hmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Marg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1750-3639.1992.tb00711.x","article-title":"Menkes disease: an Xlinked neurological disorder of the copper metabolism","volume":"2","author":"Horn, N.; Tonnesen, T.; Tumer, Z.","year":"1992","unstructured":"Horn N, Tonnesen T, Tumer Z. Menkes disease: an Xlinked neurological disorder of the copper metabolism. Brain Pathol 1992;2:351-62.","journal-title":"Brain Pathol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1007\/BF02265295","article-title":"Mapping of the Menkes locus to Xqi3.3 distal to the X-inactivation center by an intrachromosome insertion of the segment Xq13.3-q21.2","volume":"88","author":"Tumer, Z.; Horn, N.; Tonnesen, T.; Tommerup, N.","year":"1992","unstructured":"Tumer Z, Horn N, Tonnesen T, Tommerup N. Mapping of the Menkes locus to Xqi3.3 distal to the X-inactivation center by an intrachromosome insertion of the segment Xq13.3-q21.2. Hum Genet 1992;88:668-72.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/ng0193-7","article-title":"Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase","volume":"3","author":"Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J.","year":"1993","unstructured":"Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 1993;3:7-13.","journal-title":"Nature Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0193-14","article-title":"Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein","volume":"3","author":"Chelly, J.; Tumer, Z.; Tonnesen, T.","year":"1993","unstructured":"Chelly J, Tumer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein. Nature Genet 1993;3:14-19.","journal-title":"Nature Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng0193-20","article-title":"Isolation of a partial candidate gene for Menkes disease by positional cloning","volume":"3","author":"Mercer, J.F.B.; Livingston, J.; Hall, B.","year":"1993","unstructured":"Mercer JFB, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet 1993;3:20-5.","journal-title":"Nature Genet"},{"key":"ref_6","article-title":"Detection of genetic defects in Menkes disease by direct mutation analysis and its implication in carrier diagnosis","author":"Turner, Z.; Tonnesen, T.; Horn, N.","unstructured":"Turner Z, Tonnesen T, Horn N. Detection of genetic defects in Menkes disease by direct mutation analysis and its implication in carrier diagnosis. J Inher Metab Dis (in press).","journal-title":"J Inher Metab Dis"},{"key":"ref_7","article-title":"Molecular cloning: a laboratory manual","author":"Maniatis, T.; Fritsch, E.; Sambrook, J.","year":"1982","unstructured":"Maniatis T, Fritsch E, Sambrook J. Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbour Laboratory Press, 1982.","journal-title":"Cold Spring Harbor: Cold Spring Harbour"},{"key":"ref_8","first-page":"12","article-title":"Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism","volume":"1","author":"Tonnesen, T.; Hom, N.","year":"1989","unstructured":"Tonnesen T, Hom N. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inher Metab Dis 1989;1(suppl 12):207-14.","journal-title":"J Inher Metab Dis"},{"key":"ref_9","first-page":"6","article-title":"Menkes' X-linked disease: prenatal diagnosis and carrier detection","volume":"1","author":"Hom, N.","year":"1983","unstructured":"Hom N. Menkes' X-linked disease: prenatal diagnosis and carrier detection. J Inher Metab Dis 1983;1(suppl 6):59-62.","journal-title":"J Inher Metab Dis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.8.615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:34:43Z","timestamp":1760722483000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.8.615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1994,8,1]]},"published-print":{"date-parts":[[1994,8]]}},"alternative-id":["10.1136\/jmg.31.8.615"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.8.615","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}