PTEN mutation in a family with Cowden syndrome and autism.

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Title:	PTEN mutation in a family with Cowden syndrome and autism.
Author(s):	Goffin, A.; Hoefsloot, L.H. ; Bosgoed, E.A.J.; Swillen, A.; Fryns, J.P.
Publication year:	2001
Source:	American Journal of Medical Genetics, vol. 105, iss. 6, (2001), pp. 521--4
ISSN:	0148-7299
DOI:	https://doi.org/10.1002/ajmg.1477
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/120726
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Subject:	Elucidation of hereditary disorders and their molecular diagnosis Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Organization:	Human Genetics
Journal title:	American Journal of Medical Genetics
Volume:	vol. 105
Issue:	iss. 6
Page start:	p. 521-
Page end:	p. 4
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 mother 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 developmental disorder seems to be an indication for screening for PTEN mutations.