Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Research Abstract Details 

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Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Abstract Text:

H Hartmann,G Uyanik,C Gross,U Hehr,T ,M Arslan-Kirchner,B Antosch,A M Das,J Winkler,H Hartmann,G Uyanik,C Gross,U Hehr,T ,M Arslan-Kirchner,B Antosch,A M Das,J Winkler,

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.

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Publishing Authors By Initials

H Hartmann,G Uyanik,C Gross,U Hehr,T ,M Arslan-Kirchner,B Antosch,AM Das,J Winkler,H Hartmann,G Uyanik,C Gross,U Hehr,T ,M Arslan-Kirchner,B Antosch,AM Das,J Winkler,

For similar male urogenital diseases: urogenital abnormalities research abstracts see: male urogenital diseases: urogenital abnormalities research

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Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neuropediatrics

VOLUME: 35

Page Numbers: 157-60

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Jun

YEAR: 2004

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Keywords Mesh Terms:

KEYWORDS: Urogenital Abnormalities

MESH TERMS: genetics

Chemical & Substance for Abstract: Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Information

Substance Name: Transcription Factors

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Grant and Affiliation Information for Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

AFFILIATION: Center for Pediatrics and Human Genetics, Hannover Medical School, Hannover, Germany. hartmann.hans@mh-hannover.de

Country: Germany

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MEDLINETA: Neuropediatrics

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