Mowat–wilson Syndrome

Mowat, David; Wilson, Meredith

doi:10.1002/9781119432692.ch38

Cited by 9 publications

(10 citation statements)

References 57 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Associated features may also be present and include short stature, eye alterations, Hirschsprung disease and congenital heart defects. 5 The patient described in this case, with confirmed MWS, presented typical features of this disorder (post-natal microcephaly, developmental delay, intellectual disability, congenital heart defect and epilepsy) but also middle ear dysfunction and hypothyroidism, symptoms not commonly reported as part of MWS manifestations. However, whether these last two clinical manifestations are due to the genetic alteration in the ZEB2 gene or coincidental findings is not clear.…”

Section: Discussionmentioning

confidence: 66%

See 1 more Smart Citation

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Pachajoa¹,

Gómez-Pineda²,

Giraldo-Ocampo³

et al. 2022

PGPM

View full text Add to dashboard Cite

Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic variants in the ZEB2 gene, have been reported with an estimated frequency of 1 per 70,000 births. Here we report a Colombian female patient with facial gestalt, intellectual disability, microcephaly, congenital heart defects, hypothyroidism and middle ear defect associated with the nonsense pathogenic variant c.2761C>T (p.Arg921Ter) in the ZEB2 gene. This case contributes to the understanding of the clinical complications and the natural history of this complex and clinically heterogeneous disorder but also to the awareness that patients with heart congenital defects and dysmorphic facies may present an underlying genetic disorder.

show abstract

Section: Discussionmentioning

confidence: 66%

“… 3 Currently, more than 350 cases have been described in the literature 4 with an estimated incidence of at least 1 per 70,000 births. 5 …”

Section: Introductionmentioning

confidence: 99%

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Pachajoa¹,

Gómez-Pineda²,

Giraldo-Ocampo³

et al. 2022

PGPM

View full text Add to dashboard Cite

show abstract

“…The careful etiological assessment is therefore an essential step for many reasons: genetic counseling only becomes possible with a precise diagnosis, especially in the face of deafness associated with a polymalformative syndrome and the progressive prognosis and the management will subsequently depend on the cause ; as in our case we followed the research protocol for a congenital syndromic etiology which led us, to everyone's surprise, to a rare syndrome still under study: Mowat-Wilson syndrome (MWS) which is a syndrome Multiple birth defects characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung's disease (HSC), and variable birth defects. The prevalence is estimated between 1 / 50,000 and 1 / 70,000 live births [7]. In addition, prenatal diagnosis has become available and essential for subsequent pregnancies of parents with an affected child.The majority of cases of MWS reported so far were sporadic as in our case, however, germline mosaicism has been described.…”

Section: Discussionmentioning

confidence: 99%

Hearing Problems in Children and Mowat-Wilson Syndrome: A Case Report

Wided¹

2020

SJO

View full text Add to dashboard Cite

“…Mowat-Wilson syndrome (MWS; OMIM 235730), a rare autosomal dominant multiple congenital anomaly syndrome, is present in 1: 50,000-70,000 individuals [Mowat and Wilson, 2010]. It is characterized by intellectual disability (ID), facial dysmorphism in addition to congenital anomalies [Mowat et al, 1998].…”

Section: Introductionmentioning

confidence: 99%

Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome

et al. 2021

View full text Add to dashboard Cite

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene. Here, we report on an Egyptian MWS patient diagnosed by chromosomal microarray (CMA). A 1-year-old male child was referred to the CHD clinic, National Research Centre, presenting with dysmorphic features and CHD. The patient was referred to the human cytogenetics department for cytogenetic analysis and for screening of subtelomere rearrangements and microdeletion loci, using MLPA, and all revealed normal results. CMA revealed an interstitial 2.27-Mb microdeletion in chromosome 2q, involving the entire ZEB2 gene and other genes. This study emphasizes the significance of CMA in the detection of microdeletions/microduplications and as a screening tool in cases presenting with CHD and extracardiac manifestations. MWS should be suspected in patients presenting with the characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, and congenital heart anomalies, especially those involving the pulmonary arteries or pulmonary valves. It is recommended to include the ZEB2 locus in the MLPA microdeletions probes.

show abstract

Mowat–wilson Syndrome

Cited by 9 publications

References 57 publications

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Hearing Problems in Children and Mowat-Wilson Syndrome: A Case Report

Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome

Contact Info

Product

Resources

About