Mowat-Wilson syndrome:: an underdiagnosed syndrome?
Mowat-Wilson syndrome:: an underdiagnosed syndrome?
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DOI：
10.1111/j.1399-0004.2008.00997.x
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发表时间：
2008-06-01
影响因子：
3.5
通讯作者：
Tumer, Z.
中科院分区：
文献类型：
--
作者：
Engenheiro, E.;Moller, R. S.;Tumer, Z.
Mowat-Wilson综合征（MWS）是一种常染色体显性遗传性发育障碍，由于2 q22处的ZEB 2（ZFHX 1B）基因突变而导致精神发育迟滞和多种先天性异常。MWS于1998年首次被描述，致病基因于2001年被描述。从那时起，已经发表了115种不同的ZEB 2突变与161名个体的这种综合征有关。然而，最近的报告表明，由于先天性异常的变异性，这种综合征可能仍然诊断不足。我们报告了两个无关的MWS患者的临床诊断后，才建立了平衡易位断点和间质微缺失，分别发现ZEB 2基因的破坏。
Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively.