Human Molecular Genetics, Vol 5, 977-979, Copyright © 1996 by Oxford University Press
P Billuart, MC Vinet, V des Portes, S Llense, L Richard, ML Moutard, D Recan, T Bruls, T Bienvenu, A Kahn, C Beldjord and 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.
ARTICLES
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
Institut Cochin de Genetique Moleculaire, INSERM U129, Paris, France.
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