Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7045
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dc.contributor.authorChristophe-Hobertus, C.en
dc.contributor.authorKooy, F.en
dc.contributor.authorGecz, J.en
dc.contributor.authorAbramowicz, M.en
dc.contributor.authorHolinski-Feder, E.en
dc.contributor.authorSchwartz, C.en
dc.contributor.authorChristophe, D.en
dc.date.issued2004en
dc.identifier.citationBMC Medical Genetics, 2004; 5(1):www 1-www 5en
dc.identifier.issn1471-2350en
dc.identifier.issn1471-2350en
dc.identifier.urihttp://hdl.handle.net/2440/7045-
dc.description.abstractBACKGROUND: The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the short arm of human chromosome X at p21.1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR). METHODS: The coding region (543 bp) of TM4SF10, including intronic junctions, and the long 3' untranslated region (3 233 bp), that has been conserved during evolution, were sequenced in 16 male XLMR patients from 14 unrelated families with definite, or suggestive, linkage to the TM4SF10 gene locus, and in 5 normal males. RESULTS: Five sequence changes were identified but none was found to be associated with the disease. Two of these changes correspond to previously known SNPs, while three other were novel SNPs in the TM4SF10 gene. CONCLUSION: We have investigated the majority of the known MRX families linked to the TM4SF10 gene region. In the absence of mutations detected, our study indicates that alterations of TM4SF10 are not a frequent cause of XLMR.en
dc.description.statementofresponsibilityChristiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz and Daniel Christopheen
dc.language.isoenen
dc.publisherBioMed Central Ltd.en
dc.rights© 2004 Christophe-Hobertus et al; licensee BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en
dc.source.urihttp://www.biomedcentral.com/1471-2350/5/22en
dc.subjectHumans; Mental Retardation, X-Linked; Genetic Predisposition to Disease; Membrane Proteins; Nerve Tissue Proteins; 3' Untranslated Regions; Polymerase Chain Reaction; Sequence Analysis, DNA; Mutation; Polymorphism, Single Nucleotide; Exons; Female; Maleen
dc.titleTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationen
dc.typeJournal articleen
dc.identifier.rmid0020041351en
dc.identifier.doi10.1186/1471-2350-5-22en
dc.identifier.pubid56360-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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