PubMed ID | Description |
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16053902 | Zweier et al., (2005) identified small deletions, splice site or truncating variants of ZEB2 (also known as ZFHX1B) using FISH, qPCR and sequencing. in 28 patients classified as typical Mowat-Wilson syndrome (MOWS). Zweier et al., (2003) (PMID: 12920073) previously identified variable sizes of deletions involving ZEB2 (from 300 kb to 11 Mb) in four patients with clinical features of MOWS. |
15121779 | Ishihara et al., (2004) described 0.2?10.42 Mb deletions of 2q22?q24.1, including partial or entire ZEB2, using a multiplex PCR method in eight patients. The authors also identified five novel nonsense and frameshift variants of ZEB2 in patients with MOWS. |
19842203 | Saunderset al., (2009) reported haploinsufficiency of ZEB2 in 27 patients with MOWS from a North American Cohort. Twenty-one patients had a nonsense, frameshift, or splice site variant identified by sequencing. Six patients had partial or entire deletions of ZEB2 |
Haploinsufficieny of ZEB2 (also known as ZFHX1B) is associated with autosomal dominant Mowat-Wilson syndrome (MOWS) characterized by distinctive facial features, intellectual disability, delayed motor development, epilepsy, and various structural anomalies including: Hirschsprung disease, genitourinary anomalies, congenital heart defects, and agenesis or hypogenesis of the corpus callosum. Wenger et al., (PMID: 25123255) described de novo variants of ZEB2 in 27/28 patients (parental testing not available for patient 28). Among the 28 patients, 22 had de novo loss of function variants. Other related publications: PMID: 24715670; PMID: 25326637; PMID: 31564432; PMID: 29455050
PubMed ID | Description |
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29263819 | Mak et al., (2016) described a 2 Mb duplication of 2q22.3 overlapping entire ZEB2 (in addition to two other genes) in a patient with conotruncal heart disease. |
Triplosensitivity of ZEB2 has not yet been characterized in an established clinical phenotype.