Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)

被引：0
|
作者：
Sztriha, L
Espinosa-Parrilia, Y
Gururaj, A
Amiel, J
Lyonnet, S
Gerami, S
Johansen, JG
机构：
[1] UAE Univ, FMHS, Dept Paediat, Al Ain, U Arab Emirates
[2] Hop Necker Enfants Malad, Dept Genet, Paris, France
[3] Hop Necker Enfants Malad, INSERM, U393, Paris, France
[4] Al Ain Hosp, Dept Paediat Surg, Al Ain, U Arab Emirates
[5] UAE Univ, FMHS, Dept Radiol, Al Ain, U Arab Emirates
来源：
NEUROPEDIATRICS | 2003年 / 34卷 / 06期
关键词：
ZFHXI B mutation; corpus callosum agenesis; microcephaly ental retardation; Hirschsprung disease;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and mental retardation (Mowat-Wilson syndrome). Mutation analysis of the zinc finger homeo box 1 B (ZFHX1 B) gene revealed a de novo 7 bp deletion (TGGCCCC) at nucleotide 1773 (1773delTGGCCCC) resulting in a frameshift and leading to a termination codon at amino acid residue 604 (604 X) in exon 8 C. The zinc finger homeo box 1 B (Smad interacting protein-1) is a transcription corepressor of Smad target genes with functions in the patterning of neural crest derived cells, CNS, and midline structures. Mutations in ZFHX1 B can lead to neurological disorders in addition to dysmorphic features, megacolon, and other malformations.
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页码：322 / 325
页数：4
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