Engenheiro E, Møller R S, Pinto M, Soares G, Nikanorova M, Carreira I M, Ullmann R, Tommerup N, Tümer Z
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Molecular and Cellular Medicine, The Panum Institute, University of Copenhagen, Denmark.
Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28.
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.
莫瓦特-威尔逊综合征（MWS）是一种常染色体显性发育障碍疾病，因位于2q22的ZEB2（ZFHX1B）基因突变导致智力发育迟缓及多种先天性异常，表现各异。MWS于1998年首次被描述，其致病基因在2001年被确定。自那时起，已有115种不同的ZEB2突变与161例该综合征患者相关的报道发表。然而，近期报告表明，由于先天性异常表现的多样性，该综合征可能仍未得到充分诊断。我们报告了两名无关的MWS患者，其中一例通过平衡易位断点发现ZEB2基因破坏而确诊，另一例则是通过间质微缺失确诊。
