{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:40:06Z","timestamp":1790844006131,"version":"4.1.0"},"reference-count":14,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:p>We describe a two generation family in which two males have the X linked recessive MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). A third male in this family died at the age of 15 years from congenital hydrocephalus. In the present family cerebral abnormalities are reported for the first time. Linkage analysis confirms the chromosome localisation at Xq28. A crossover between the coagulation factor VIII locus (F8C) and MASA syndrome, but not with DXS52 and DXS305, locates the gene on the same side of F8C as DXS52 and DXS305. The possible relationship between MASA syndrome and X linked hydrocephalus is discussed.<\/jats:p>","DOI":"10.1136\/jmg.27.11.688","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"688-692","source":"Crossref","is-referenced-by-count":47,"title":["MASA syndrome: new clinical features and linkage analysis using DNA probes."],"prefix":"10.1136","volume":"27","author":[{"given":"C","family":"Schrander-Stumpel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Legius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"Cassiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,11,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","unstructured":"McKusick VA. Mendelian inheritance in man. 8th ed. Baltimore: Johns Hopkins University Press, 1988:1378.","edition":"8th ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/ajmg.1320300152","article-title":"Linkage studies Schrander-Stumpel, Legius, Fryns, Cassiman with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)","volume":"30","author":"Sutherland, G.R.; Gedeon, A.K.; Haan, E.A.","year":"1988","unstructured":"Sutherland GR, Gedeon AK, Haan EA, et al. Linkage studies  Schrander-Stumpel, Legius, Fryns, Cassiman with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2). Am J Med Genet 1988;30:493-508.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1399-0004.1974.tb01697.x","article-title":"The MASA syndrome: a new heritable mental retardation syndrome","volume":"5","author":"Bianchine, J.W.; RC, Jr, Lewis","year":"1974","unstructured":"Bianchine JW, Lewis RC Jr. The MASA syndrome: a new heritable mental retardation syndrome. Clin Genet 1974;5: 298-306.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/ajmg.1320170126","article-title":"X-linked mental retardation associated with bilateral clasp thumb anomaly","volume":"17","author":"Gareis, F.; Mason, J.D.","year":"1984","unstructured":"Gareis F, Mason JD. X-linked mental retardation associated with bilateral clasp thumb anomaly. AmJ Med Genet 1984;17:333-8.","journal-title":"AmJ Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/ajmg.1320170127","article-title":"Mental retardation-clasped thumb syndrome","volume":"17","author":"Yeatman, G.W.","year":"1984","unstructured":"Yeatman GW. Mental retardation-clasped thumb syndrome. Am Jf Med Genet 1984;17:339-43.","journal-title":"Am Jf Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1007\/BF00401241","article-title":"Linkage studies of X-linked recessive spastic paraplegia using DNA probes","volume":"73","author":"Kenwrick, S.; Ionasescu, V.; Ionasescu, G.","year":"1986","unstructured":"Kenwrick S, Ionasescu V, Ionasescu G, et al. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 1986;73:264-6.","journal-title":"Hum Genet"},{"key":"ref_7","first-page":"367","article-title":"MASA syndrome: further clinical delineation and chromosomal location","volume":"82","author":"Winter, R.M.; Davies, K.; Bell, M.V.","year":"1989","unstructured":"Winter RM, Davies K, Bell MV, et al. MASA syndrome: further clinical delineation and chromosomal location. Hum Genet 1989;82:367-70.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF00288280","article-title":"A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome","volume":"82","author":"Vincent, A.; Kretz, C.; Oberle, I.","year":"1989","unstructured":"Vincent A, Kretz C, Oberle I, et al. A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome. Hum Genet 1989;82:85-6.","journal-title":"Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1136\/jmg.23.1.23","article-title":"X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia","volume":"23","author":"Halliday, J.; Chow, C.W.; Wallace, D.","year":"1986","unstructured":"Halliday J, Chow CW, Wallace D, et al. X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. J Med Genet 1986;23:23-31.","journal-title":"J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1111\/j.1469-8749.1979.tb01678.x","article-title":"Aquaductal stenosis in X-linked hydrocephalus: a secondary phenomenon?","volume":"21","author":"Landrieu, P.; Ninane, J.; Ferrierer, G.","year":"1979","unstructured":"Landrieu P, Ninane J, Ferrierer G, et al. Aquaductal stenosis in X-linked hydrocephalus: a secondary phenomenon? Dev Med Child Neurol 1979;21:637-52.","journal-title":"Dev Med Child Neurol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ajmg.1320270419","volume":"27","author":"Willems, P.J.; Brouwer, O.F.; Dijkstra, I.","year":"1987","unstructured":"Willems PJ, Brouwer OF, Dijkstra I, et al. X-linked hydrocephalus. Am J Med Genet 1987;27:921-8.","journal-title":"X-linked hydrocephalus. Am J Med Genet"},{"key":"ref_12","first-page":"1","article-title":"Assignment of X-linked hydrocephalus to Xq28","volume":"45","author":"Willems, P.J.; Dijkstra, I.; Van der Auwera, B.J.","year":"1989","unstructured":"Willems PJ, Dijkstra I, Van der Auwera BJ, et al. Assignment of X-linked hydrocephalus to Xq28. Am Hum Genet 1989;45 suppl): 1-352.","journal-title":"Am Hum Genet"},{"issue":"165","key":"ref_13","first-page":"15","article-title":"Linkage studies in X linked spastic paraplegia","volume":"41","author":"Fishbeck, K.H.; Shi, Y.; Ritter, A.","year":"1987","unstructured":"Fishbeck KH, Shi Y, Ritter A, et al. Linkage studies in X linked spastic paraplegia. Am Hum Genet 1987;41:165A. 15 Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X linked spastic paraplegia. Am Hum Genet 1987;41:933-43.","journal-title":"Am Hum Genet; Etiological heterogeneity in X linked spastic paraplegia"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/j.1399-0004.1989.tb02915.x","article-title":"X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype","volume":"35","author":"Goldblatt, J.; Ballo, R.; Sachs, B.","year":"1989","unstructured":"Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet 1989;35: 116-20.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.11.688","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:37:48Z","timestamp":1760729868000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.11.688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":14,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1990,11,1]]},"published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1136\/jmg.27.11.688"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.11.688","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,11]]}}}