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dc.contributor.authorLossi, A.en
dc.contributor.authorLaugier-Anfossi, F.en
dc.contributor.authorDepetris, D.en
dc.contributor.authorGecz, J.en
dc.contributor.authorGedeon, A.en
dc.contributor.authorKooy, F.en
dc.contributor.authorSchwartz, C.en
dc.contributor.authorMattei, M.en
dc.contributor.authorCroquette, M.en
dc.contributor.authorVillard, L.en
dc.identifier.citationJournal of Medical Genetics, 2002; 39(2):113-117en
dc.descriptionCopyright © 2002 by the BMJ Publishing Group Ltd.en
dc.description.abstractNon-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Physical mapping of the translocation breakpoint on the human X chromosome was performed using fluorescence in situ hybridisation. We have mapped the X chromosome breakpoint to a 21 kb DNA fragment upstream of the first exon of the KLF8 (ZNF741) gene in Xp11.21. We have subsequently shown that the KLF8 transcript is no longer detected in cells from the patient, although KLF8 expression is otherwise normally present in control lymphoblasts. Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene.en
dc.description.statementofresponsibilityA-M Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M-G Mattei, M-F Croquette, L Villarden
dc.publisherBritish Med Journal Publ Groupen
dc.subjectX linked mental retardation; KLF8; translocationen
dc.titleAbnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationen
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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