ARX mutations in X-linked lissencephaly with abnormal genitalia.
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.
Uyanik
G
G
Department of Neurology, University of Regensburg, Germany.
Aigner
L
L
Martin
P
P
Gross
C
C
Neumann
D
D
Marschner-Schäfer
H
H
Hehr
U
U
Winkler
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D001479:Basal Ganglia / Q000002:abnormalities; D002465:Cell Movement; D002540:Cerebral Cortex / Q000002:abnormalities*; D003456:Cryptorchidism / Q000235:genetics; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D017384:Sequence Deletion; D013329:Structure-Activity Relationship; D014157:Transcription Factors / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000502:physiology*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors