Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene
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Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.
KeywordsXp22.12 microduplication RPS6KA3 gene X-linked intellectual disabilities
This work was supported by the ‘Fondazione Emma ed Ernesto Rulfo per la Genetica Medica’ (Italy). This study makes used of data generated by the DECIPHER Consortium. We are indebted to the family members for their collaboration.
- Potocki L., Bi W., Treadwell-Deering D., Carvalho C. M., Eifert A., Friedman E. M. et al. 2007 Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage- sensitive critical interval that can convey an autism phenotype. Am. J. Hum. Genet. 80, 633–649.CrossRefGoogle Scholar