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Hum Genet. 2005 Oct;118(1):45-8. Epub 2005 Oct 28.

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

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Institut Cochin - INSERM U567, Université Paris V René Descartes, IFR116, 24 rue du Faubourg St Jacques, 75014, Paris, France.


We describe two brothers with mental retardation (MR) due to a c.428_451dup24 in the ARX gene. The mother did not apparently carry the mutation, as determined by dHPLC and by fragment size analysis. Using semiquantitative fluorescent PCR, we show however that 4% of her lymphocytes and 24% of her fibroblasts harbored the duplication. We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR.

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