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Asplenia in ATR‐X syndrome: A second report
Author(s) -
Leahy Ronan T.,
Philip Roy K.,
Gibbons Richard J.,
Fisher Chris,
Suri Mohnish,
Reardon William
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30990
Subject(s) - locus (genetics) , asplenia , mutation , genetics , phenotype , medicine , spleen , biology , gene
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. © 2005 Wiley‐Liss, Inc.