title: Asplenia in ATR-X syndrome: a second report.
abstract: 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.
authors.affiliation: Regional Hospital, Limerick, Ireland.
authors.forename: Ronan T
authors.initials: RT
authors.lastname: Leahy
authors.forename: Roy K
authors.initials: RK
authors.lastname: Philip
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: Chris
authors.initials: C
authors.lastname: Fisher
authors.forename: Mohnish
authors.initials: M
authors.lastname: Suri
authors.forename: William
authors.initials: W
authors.lastname: Reardon
mesh_terms: D000015:Abnormalities, Multiple; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D011008:Pneumococcal Infections / Q000209:etiology; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome; D000075924:X-linked Nuclear Protein
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein