Mowat-Wilson Syndrome

Abdalla, Ebtesam; Zayed, L.

doi:10.1177/0883073813509120

Cited by 7 publications

(2 citation statements)

References 19 publications

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“…This manifestation is less common and has been described only rarely. [14][15][16] It was first reported in Chinese patients with MWS. The manifestation of bilateral sensorineural hearing loss may reflect the variability of the phenotype in MWS.…”

Section: Discussionmentioning

confidence: 99%

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

Wei

Han²,

et al. 2021

PGPM

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Purpose Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we summarize the clinical characteristics and gene mutation analysis of a Chinese boy with MWS. Patients and Methods The clinical features of the patient were monitored. DNA extracted from peripheral blood was subjected to sequencing analysis. Then, the whole-exome sequencing was performed. Results A novel deletion mutation (c.1137_1146del TAGTATGTCT) was identified in exon 8 of the ZEB2 gene. The deletion mutation was predicted to produce a truncated protein (p.S380Nfs*13), resulting in haploinsufficiency. The patient presented with short stature, microcephaly, congenital heart defects, cryptorchidism, corpus callosum agenesis, global developmental delay, and intellectual disability. Furthermore, he demonstrated bilateral sensorineural hearing loss. This manifestation is less common in MWS. It is first reported in Chinese patients with MWS. Clinical follow-up showed that the facial features of MWS developed with time. The facial features of the patient were not obvious except for the uplifted ear lobes at the age of 3 months. At the age of 22 months, the facial characteristics of the patient included ocular hypertelorism, frontal bossing, rounded nasal tip, sparse eyebrows, prominent chin, widely spaced teeth, and uplifted ear lobes with a central depression. Conclusion A novel deletion mutation of the ZEB2 gene was identified. This work contributes to expanding the mutation spectra of MWS. Our results may reflect the variability of the phenotype in MWS.

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Section: Discussionmentioning

confidence: 99%

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

Wei

Han²,

et al. 2021

PGPM

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“…Other conditions that can cause deafness and partial or total agenesis of the corpus callosum, such as Mowat–Wilson syndrome, 7 Donnai-Barrow syndrome, 8 Wolfram syndrome, 9 and congenital cytomegalovirus infection, 3 should be excluded. Mutations in the G-protein-signaling modulator 2 ( GPSM2 ) gene GPSM2 gene can confirm the diagnosis of CMS.…”

Section: Introductionmentioning

confidence: 99%

Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

Freitas

Barros

Barletta

et al. 2021

Journal of Pediatric Neurology

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Chudley–McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.

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Hirschsprung’s disease in children with Mowat–Wilson syndrome

Coyle

Puri

2015

Pediatr Surg Int

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Hirschsprung's disease is present in approximately 45% of patients diagnosed with MWS. Although there is a relative lack of data available on the clinical phenotype of HSCR in this group and their functional outcome following pull-through operation, our data suggest an increased prevalence of long-segment aganglionosis and an increased risk of clinically significant persistent bowel symptoms following pull-through surgery, in many cases necessitating terminal stoma formation.

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Mowat-Wilson Syndrome

Cited by 7 publications

References 19 publications

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

Hirschsprung’s disease in children with Mowat–Wilson syndrome

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