PTEN mutation in a family with Cowden syndrome and autism

Authors
Goffin, A Hoefsloot, LH Bosgoed, E Swillen, A Fryns, JP
Citation
A. Goffin et al., PTEN mutation in a family with Cowden syndrome and autism, AM J MED G, 105(6), 2001, pp. 521-524
Citations number
31
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
105
Issue
6
Year of publication
2001
Pages
521 - 524
Database
ISI
SICI code
0148-7299(20010808)105:6<521:PMIAFW>2.0.ZU;2-X
Abstract
We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his moth er has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive d evelopmental disorder seems to be an indication for screening for PTEN muta tions. (C) 2001 Wiley-Liss, Inc.