PTEN mutation in a family with Cowden syndrome and autism

被引：148

作者：

Goffin, A

Hoefsloot, LH

Bosgoed, E

Swillen, A

Fryns, JP

机构：

[1] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 105卷 / 06期

关键词：

PTEN mutation; Cowden syndrome; autism; multiple hamartoma syndrome;

D O I：

10.1002/ajmg.1477

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2001 Wiley-Liss, Inc.

引用

页码：521 / 524

页数：4

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