{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T19:56:39Z","timestamp":1792526199075,"version":"4.5.0"},"reference-count":41,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,5]]},"abstract":"<jats:p>The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain.<\/jats:p>","DOI":"10.1136\/jmg.35.5.399","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"399-404","source":"Crossref","is-referenced-by-count":97,"title":["Genotype-phenotype correlation in L1 associated diseases."],"prefix":"10.1136","volume":"35","author":[{"given":"E","family":"Fransen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Van Camp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"D'Hooge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Vits","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/334701a0","article-title":"Neural adhesion molecule LI as a member of the immunoglobulin superfamily with binding domain similar to fibronectin","volume":"334","author":"Moos, M.; Tacke, R.; Scherer, H.","year":"1988","unstructured":"Moos M, Tacke R, Scherer H, et al. 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AmJIMed Genet 1984;17:339-44.","journal-title":"AmJIMed Genet"},{"key":"ref_27","first-page":"408","article-title":"Clasped thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28","volume":"43","author":"Macias, V.R.; Day, D.W.; King, T.E.; Wilson, G.N.","year":"1992","unstructured":"Macias VR, Day DW, King TE, Wilson GN. Clasped thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.. Med Genet 1992;43:408-14.","journal-title":"Med Genet"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/BF01957757","article-title":"X-linked hydrocephalus: clinical heterogeneity at a single gene locus","volume":"151","author":"Serville, F.; Lyonnet, S.; Pelet, A.","year":"1992","unstructured":"Serville F, Lyonnet S, Pelet A, et al. X-linked hydrocephalus: clinical heterogeneity at a single gene locus. 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The clinical spectrum of mutations in Li, a neuronal cell adhesion molecule. Am Med Genet 1996;64:73-7.","journal-title":"Am Med Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X-linked spastic paraplegia (SPGI), MASA syndrome and X-linked hydrocephalus result from mutations in the Li gene","volume":"7","author":"Jouet, M.; Rosenthal, A.; Armstrong, G.","year":"1994","unstructured":"Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPGI), MASA syndrome and X-linked hydrocephalus result from mutations in the Li gene. Nat Genet 1994;7:402-7.","journal-title":"Nat Genet"},{"issue":"36","key":"ref_32","first-page":"481","article-title":"Sex-linked hydrocephalus: report of a family with 15 affected members","volume":"1961","author":"Edwards, J.H.; Norman, R.M.; Roberts, J.M.","unstructured":"Edwards JH, Norman RM, Roberts JM. Sex-linked hydrocephalus: report of a family with 15 affected members. 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