PMID- 17044103
OWN - NLM
STAT- MEDLINE
DCOM- 20070411
LR  - 20200930
IS  - 1552-4841 (Print)
IS  - 1552-485X (Electronic)
IS  - 1552-4841 (Linking)
VI  - 144B
IP  - 2
DP  - 2007 Mar 5
TI  - Mutation screening of the ARX gene in patients with autism.
PG  - 228-30
AB  - Mutations in the Aristaless related homeobox (ARX) gene are associated with a 
      broad spectrum of disorders, including nonsyndromic X-linked mental retardation, 
      sometimes associated with epilepsy, as well as syndromic forms with brain 
      abnormalities and abnormal genitalia. Furthermore, ARX mutations have been 
      described in a few patients with autism or autistic features. In this study, we 
      screened the ARX gene in 226 male patients with autism spectrum disorders and 
      mental retardation; 42 of the patients had epilepsy. The mutation analysis was 
      performed by direct sequencing of all exons and flanking regions. No ARX 
      mutations were identified in any of the patients tested. These findings indicate 
      that mutations in the ARX gene are very rare in autism.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Chaste, Pauline
AU  - Chaste P
AD  - INSERM U513, Universite Paris XII, Creteil, France.
FAU - Nygren, Gudrun
AU  - Nygren G
FAU - Anckarsater, Henrik
AU  - Anckarsater H
FAU - Rastam, Maria
AU  - Rastam M
FAU - Coleman, Mary
AU  - Coleman M
FAU - Leboyer, Marion
AU  - Leboyer M
FAU - Gillberg, Christopher
AU  - Gillberg C
FAU - Betancur, Catalina
AU  - Betancur C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet B Neuropsychiatr Genet
JT  - American journal of medical genetics. Part B, Neuropsychiatric genetics : the 
      official publication of the International Society of Psychiatric Genetics
JID - 101235742
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Autistic Disorder/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Genetic Testing
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Transcription Factors/*genetics
PMC - PMC4826442
EDAT- 2006/10/18 09:00
MHDA- 2007/04/12 09:00
CRDT- 2006/10/18 09:00
PHST- 2006/10/18 09:00 [pubmed]
PHST- 2007/04/12 09:00 [medline]
PHST- 2006/10/18 09:00 [entrez]
AID - 10.1002/ajmg.b.30440 [doi]
PST - ppublish
SO  - Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):228-30. doi: 
      10.1002/ajmg.b.30440.