A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2

被引:60
作者
Faiella, A
Brunelli, S
Granata, T
DIncerti, L
Cardini, R
Lenti, C
Battaglia, G
Boncinelli, E
机构
[1] SAN RAFFAELE SCI INST,DIBIT,I-20132 MILAN,ITALY
[2] IST NEUROCHIRURG C BESTA,DEPT CHILD NEUROL,I-20133 MILAN,ITALY
[3] IST NEUROCHIRURG C BESTA,DEPT NEURORADIOL,I-20133 MILAN,ITALY
[4] IRCCS,MILAN,ITALY
[5] UNIV MILAN,IST NEUROPSICHIATRIA INFANTILE,I-20122 MILAN,ITALY
[6] IST NEUROCHIRURG C BESTA,DEPT NEUROPHYSIOL,I-20133 MILAN,ITALY
[7] CNR,CTR MOL & CELLULAR PHARMACOL,I-20133 MILAN,ITALY
关键词
homeobox; brain; mutations; cerebral cortex; dysgenesis;
D O I
10.1159/000484761
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:186 / 190
页数:5
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