PMID- 15248097
OWN - NLM
STAT- MEDLINE
DCOM- 20041019
LR  - 20111117
IS  - 0174-304X (Print)
IS  - 0174-304X (Linking)
VI  - 35
IP  - 3
DP  - 2004 Jun
TI  - Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due 
      to a novel familial mutation in the Aristaless-related homeobox gene.
PG  - 157-60
AB  - Mutations in the Aristaless-related homeobox (ARX) gene are associated with a 
      broad spectrum of disorders including X-linked lissencephaly with abnormal 
      genitalia (XLAG) and absent corpus callosum. Here, we describe a family with two 
      male infants suffering from agenesis of the corpus callosum (ACC), intractable 
      epilepsy, and abnormal genitalia. The phenotype of both affected patients 
      differed in severity of the cerebral malformation with one showing no obvious 
      evidence for lissencephaly. Both infants lacked any psychomotor development and 
      died at the age of 17 weeks and 18 months, respectively. Genetic analysis of the 
      ARX gene revealed a novel frameshift mutation in exon 4 (nt1419_1420insAC) 
      leading to a shortened protein lacking the aristaless domain. In summary, 
      analysis of the ARX gene should not only be considered in male patients with 
      typical features of XLAG but also in those presenting with early onset epilepsy, 
      ACC, and abnormal genitalia without obvious neuroradiological features of 
      lissencephaly.
FAU - Hartmann, H
AU  - Hartmann H
AD  - Center for Pediatrics and Human Genetics, Hannover Medical School, Hannover, 
      Germany. hartmann.hans@mh-hannover.de
FAU - Uyanik, G
AU  - Uyanik G
FAU - Gross, C
AU  - Gross C
FAU - Hehr, U
AU  - Hehr U
FAU - Lucke, T
AU  - Lucke T
FAU - Arslan-Kirchner, M
AU  - Arslan-Kirchner M
FAU - Antosch, B
AU  - Antosch B
FAU - Das, A M
AU  - Das AM
FAU - Winkler, J
AU  - Winkler J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Neuropediatrics
JT  - Neuropediatrics
JID - 8101187
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Agenesis of Corpus Callosum
MH  - Epilepsy/*genetics
MH  - Frameshift Mutation/genetics
MH  - Genes, Homeobox/*genetics
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Pedigree
MH  - Transcription Factors/*genetics
MH  - Urogenital Abnormalities/*genetics
EDAT- 2004/07/13 05:00
MHDA- 2004/10/20 09:00
CRDT- 2004/07/13 05:00
PHST- 2004/07/13 05:00 [pubmed]
PHST- 2004/10/20 09:00 [medline]
PHST- 2004/07/13 05:00 [entrez]
AID - 10.1055/s-2004-817919 [doi]
PST - ppublish
SO  - Neuropediatrics. 2004 Jun;35(3):157-60. doi: 10.1055/s-2004-817919.