Increasing knowledge of PTEN germline mutations:: Two additional patients with autism and macrocephaly

被引：117

作者：

Herman, Gail E.

Butter, Eric

Enrile, Benedicta

Pastore, Matthew

Prior, Thomas W.

Sommer, Annemarie

机构：

[1] Ohio State Univ, Ctr Mol & Human Genet, Columbus Childrens Res Inst, Columbus, OH 43205 USA

[2] Ohio State Univ, Dept Pediat, Columbus, OH 43205 USA

[3] Ohio State Univ, Dept Psychol, Columbus, OH 43205 USA

[4] Ohio State Univ, Dept Pathol, Columbus, OH 43205 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 06期

关键词：

autism; PTEN; macrocephaly;

D O I：

10.1002/ajmg.a.31619

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently, Butler et al. [2005; J Med Genet 42:318-321] reported the presence of heterozygous germline mutations in the PTEN tumor suppressor gene in three children with autism and macrocephaly. Here, we report the presence of PTEN mutations in two additional unrelated children with macrocephaly and autism. Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals. (c) 2007 Wiley-Liss, Inc.

引用

收藏

页码：589 / 593

页数：5

相关论文

共 32 条

[1] The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders [J].

Abdul-Rahman, OA ;

Hudgins, L .

GENETICS IN MEDICINE, 2006, 8 (01) :50-54

[2]

*AGRE, 2006, AUYT GEN RES EXCH IN

[3] Etiologic yield of autistic spectrum disorders: A prospective study [J].

Battaglia, A ;

Carey, JC .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2006, 142C (01) :3-7

[4]

BATTAGLIA A, 2003, AM J MED GENET C, V142, P8

[5] Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations [J].

Butler, MG ;

Dasouki, MJ ;

Zhou, XP ;

Talebizadeh, Z ;

Brown, M ;

Takahashi, TN ;

Miles, JH ;

Wang, CH ;

Stratton, R ;

Pilarski, R ;

Eng, C .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (04) :318-321

[6] Replication of autism linkage:: Fine-mapping peak at 17q21 [J].

Cantor, RM ;

Kono, N ;

Duvall, JA ;

Alvarez-Retuerto, A ;

Stone, JL ;

Alarcón, M ;

Nelson, SF ;

Geschwind, DH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1050-1056

[7] The yield of the medical evaluation of children with pervasive developmental disorders [J].

Challman, TD ;

Barbaresi, WJ ;

Katusic, SK ;

Weaver, A .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2003, 33 (02) :187-192

[8] Specific genetic disorders and autism:: Clinical contribution towards their identification [J].

Cohen, D ;

Pichard, N ;

Tordjman, S ;

Baumann, C ;

Burglen, L ;

Excoffier, E ;

Lazar, G ;

Mazet, P ;

Pinquier, C ;

Verloes, A ;

Héron, D .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2005, 35 (01) :103-116

[9] Beyond PTEN mutations: the PI3K pathway as an integrator of multiple inputs during tumorigenesis [J].

Cully, M ;

You, H ;

Levine, AJ ;

Mak, TW .

NATURE REVIEWS CANCER, 2006, 6 (03) :184-192

[10]

Dasouki MJ, 2001, AM J HUM GENET, V69, P280

← 1 2 3 4 →