625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative genomic hybridization (CGH). The duplicated region contains only one gene, RPS6KA3, that results in partial duplication. The same duplication was present in his mother and his maternal uncle. This partial duplication inhibits the RPS6KA3 expression, mimicking the effect of loss-of-function mutations associated with Coffin-Lowry syndrome (CLS). The phenotype of the patient here presented is not fully evocative of this syndrome because he does not present some of the facial, digital and skeletal abnormalities that are considered the main diagnostic features of CLS. This case is one of the few examples where RPS6KA3 mutations are associated with a non-specific X-linked mental retardation.
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Veronica
V
Bertini
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Francesca
F
Cambi
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Rossella
R
Bruno
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Benedetta
B
Toschi
Unita' di Audiologia e Foniatria Universitaria, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Francesca
F
Forli
Unita' di Audiologia e Foniatria Universitaria, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Stefano
S
Berrettini
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Paolo
P
Simi
Laboratorio di Genetica Medica, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy.
Angelo
A
Valetto
D002648:Child; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*
D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3