Asplenia in ATR-X syndrome: A second report

✍ Scribed by Ronan T. Leahy; Roy K. Philip; Richard J. Gibbons; Chris Fisher; Mohnish Suri; William Reardon

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 125 KB
• Volume: 139A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30990

✦ Synopsis

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.