Abstract:
:Non-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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Lossi AM,Laugier-Anfossi F,Depetris D,Gecz J,Gedeon A,Kooy F,Schwartz C,Mattei MG,Croquette MF,Villard Ldoi
10.1136/jmg.39.2.113keywords:
subject
Has Abstractpub_date
2002-02-01 00:00:00pages
113-7issue
2eissn
0022-2593issn
1468-6244journal_volume
39pub_type
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