Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype
Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype
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与轻度 Mowat-Wilson 综合征表型相关的非典型 ZFHX1B 突变
DOI：
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
A. Rauch
中科院分区：
文献类型：
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作者：
C. Zweier;D. Horn;C. Kraus;A. Rauch
mowalt - wilson综合征是最近发现的一种由锌指同源盒1B基因（ZFHX1B）显性无义或移码突变、缺失或易位引起的严重智力迟钝、多重先天性异常综合征。我们报告了一个患者异常轻度表型引起的一个新的和不寻常的剪接突变在5'UTR。异常转录导致使用另一个上游起始密码子。所得到的蛋白与野生型仅在前24个氨基酸上有所不同。因此，这种异常蛋白包含所有已知的功能域，但可能缺乏一个迄今为止尚未被识别的假定的N端酰化位点，这可能对神经元功能和面部结构很重要。©2006 Wiley‐Liss, Inc。
Mowat–Wilson syndrome is a recently delineated severe mental retardation, multiple congenital anomalies syndrome caused by dominant nonsense or frameshift mutations, deletions or translocations of the zinc finger homeobox 1B gene (ZFHX1B). We report on a patient with exceptional mild phenotype caused by a novel and unusual splice mutation in the 5′UTR. The aberrant transcript leads to usage of an alternative upstream start codon. The resulting protein differs from the wild‐type only in the first 24 amino acids. The aberrant protein therefore contains all known functional domains, but might lack a so far unrecognized putative N‐terminal acylation site, which is probably important for neuronal function and facial structures. © 2006 Wiley‐Liss, Inc.