Abstract
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Amino Acid Substitution
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Basal Ganglia / abnormalities
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Cell Movement
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Cerebral Cortex / abnormalities*
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Cryptorchidism / genetics
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DNA Mutational Analysis
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Epilepsy / genetics
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Fatal Outcome
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Genitalia, Male / abnormalities*
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Heart Defects, Congenital / genetics
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Homeodomain Proteins / chemistry
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Homeodomain Proteins / genetics
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Homeodomain Proteins / physiology*
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Humans
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Hypospadias / genetics
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Infant, Newborn
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Male
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Mental Retardation, X-Linked / genetics*
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Microcephaly / genetics
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Mutation, Missense
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Pedigree
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Point Mutation*
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Protein Structure, Tertiary
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Sequence Deletion
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Structure-Activity Relationship
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Transcription Factors / chemistry
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Transcription Factors / deficiency
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Transcription Factors / genetics
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Transcription Factors / physiology*
Substances
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ARX protein, human
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Homeodomain Proteins
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Transcription Factors