Mowat-Wilson syndrome:: an underdiagnosed syndrome?

被引：17

作者：

Engenheiro, E. ^{[1
]}

Moller, R. S. ^{[1
,2
]}

Pinto, M. ^{[3
]}

Soares, G. ^{[3
]}

Nikanorova, M. ^{[2
]}

Carreira, I. M. ^{[4
,5
]}

Ullmann, R. ^{[6
]}

Tommerup, N. ^{[1
]}

Tumer, Z. ^{[1
]}

机构：

[1] Univ Copenhagen, Panum Inst, Inst Mol & Cellular Med, Wilhelm Johannsen Ctr Funct Genome Res, DK-2200 Copenhagen, Denmark

[2] Danish Epilepsy Ctr, Dianalund, Denmark

[3] Inst Med Genet Jacinto Magalhaes, Oporto, Portugal

[4] Univ Coimbra, Cytogenet Lab, Inst Med Biol, Coimbra, Portugal

[5] Univ Coimbra, Fac Med, Ctr Neurosci & Cell Biol, Coimbra, Portugal

[6] Max Planck Inst Mol Genet, Berlin, Germany

来源：

CLINICAL GENETICS | 2008年 / 73卷 / 06期

关键词：

chromosome; 2q22; complex chromosomal rearrangement (CCR); deletion; Mowat; Wilson syndrome (MWS); SIP1; ZEB2; ZFHX1B;

D O I：

10.1111/j.1399-0004.2008.00997.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：579 / 584

页数：6

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