Title: A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3
Authors: Tejada, Maria-Isabel ×
Martinez-Bouzas, Cristina
Garcia-Ribes, Ainhoa
Larrucea, Susana
Acquadro, Francesco
Cigudosa, Juan-C
Belet, Stefanie
Froyen, Guy
Lopez-Ariztegui, Maria-Asun #
Issue Date: Oct-2011
Publisher: American Academy of Pediatrics
Series Title: Pediatrics vol:128 issue:4 pages:E1029-E1033
Abstract: Multiplex ligation-dependent probe amplification (MLPA) and array-comparative genomic hybridization analysis have been proven to be useful in the identification of submicroscopic copy-number imbalances in families with nonsyndromic X-linked intellectual disability (NS-XLID). Here we report the first description of a child with mild intellectual disability and a submicroscopic duplication at Xp22.12 identified by MLPA with a P106 MRX kit (MRC-Holland, Amsterdam, Netherlands) and further confirmed and characterized with a custom 244-k oligo-array, fluorescence in situ hybridization, quantitative polymerase chain reaction (qPCR), and immunoblotting. This 1.05-megabase duplication encompasses 7 genes, RPS6KA3 being the only of these genes known to be related to ID. The proband was an 8-year-old boy referred to the genetics unit for psychomotor retardation and learning disabilities. Both maternal brothers also showed learning difficulties and delayed language during childhood in a similar way to the proband. These boys also carried the duplication, as did the healthy mother and grandmother of the proband. The same duplication was also observed in the 5-year-old younger brother who presented with features of developmental delay and learning disabilities during the previous year. Increased RPS6KA3/RSK2 levels were demonstrated in the proband by qPCR and immunoblotting. To our knowledge, this is the first family identified with a submicroscopic duplication including the entire RPS6KA3/RSK2 gene, and our findings suggest that an increased dose of this gene is responsible for a mild form of NS-XLID. Pediatrics 2011;128:e1029-e1033
ISSN: 0031-4005
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Human Genome Laboratory
× corresponding author
# (joint) last author

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