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Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus.

Original publication




Journal article


Am J Med Genet A

Publication Date





37 - 39


Abnormalities, Multiple, DNA Helicases, Humans, Infant, Newborn, Intellectual Disability, Male, Mutation, Nuclear Proteins, Pneumococcal Infections, Spleen, Syndrome, X-linked Nuclear Protein