| Autor: |
Lossi, A.-M., Laugier-Anfossi, F., Depertris, D., Gecz, J., Gedeon, A., Kooy, F., Schwartz, C., Mattei, M.-G., Croquette, M.-F., Villard, L. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Feb2002, Vol. 39 Issue 2, p113-117, 5p, 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph |
| Abstrakt: |
Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which oil 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 break- point 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 KLFS 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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