A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.
We report here that some patients affected by schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.
Faiella
A
A
DIBIT, Istituto Scientifico H San Raffaele, Department of Child Neurology, Milan, Italy.
Brunelli
S
S
Granata
T
T
D'Incerti
L
L
Cardini
R
R
Lenti
C
C
Battaglia
G
G
Boncinelli
E
E
D001483:Base Sequence; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D004247:DNA; D005801:Genes, Homeobox; D018095:Germ-Line Mutation; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins
D004247:DNA; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins