caa a22 4500 397574096 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.977 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.977 Identification by STS PCR Screening of a Microdeletion in Xp21.3-22.1 Associated with Non-specific Mental Retardation [Elektronische Daten] [P. Billuart, M. C. Vinet, V. des Portes, S. Llense, L. Richard, M. L. Moutard, D. Recan, T. Brüls, T. Bienvenu, A. Kahn, C. Beldjord, J. Chelly] X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. The genetic and phenotypic heterogeneity exclude any possibility of pooling families and, therefore, of fine-mapping the related disease genes. In order to identify genomic critical regions involved in the MRX condition assigned to Xp21.3-22.1 region, we have implemented the PCR screening of non fragile X MR patients for the presence of deletions in this region. The amplification by PCR of 12 markers located between POLA and DXS704 using genomic DNA from 192 MR males led to the identification, in a 9 year old mentally retarded boy, of a microdeletion which extends from DXS1202 to DXS1065. None of the known genes, POLA, MAGE genes cluster, DAX1, GK and DMD, that map in the Xp21.3-22.1 region is affected by this deletion. This approach, which could easily be applied to several other MRX loci, allowed not only a confirmation of the presence of a potential locus in Xp21.3-22.1 involved in non-specific mental retardation, but also a better definition of the genomic critical region corresponding to this locus. © 1996 Oxford University Press Billuart P. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Vinet M. C. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut des Portes V. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Llense S. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Richard L. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Moutard M. L. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Recan D. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Brüls T. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Bienvenu T. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Kahn A. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Beldjord C. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Chelly J. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 977-979 0964-6906 5:7<977 1996 5 hmg https://doi.org/10.1093/hmg/5.7.977 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.977 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Billuart P. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Vinet M. C. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- des Portes V. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Llense S. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Richard L. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Moutard M. L. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Recan D. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Brüls T. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Bienvenu T. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Kahn A. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Beldjord C. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Chelly J. Institut Cochin de Genetique Moleculaire, INSERM U129, 24 rue du Fg St Jacques, 75014, Paris, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 977-979 0964-6906 5:7<977 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford