Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Aleksandra Jakubiak,Anna Kutkowska-Kaźmierczak,Karolina Pesz,Magdalena Badura-Stronka,Anna Latos-Bieleńska,Jennifer Castaneda,Marzena Wiśniewska,Ewa Obersztyn,Małgorzata Krajewska-Walasek,Jolanta Wierzba,Jacek Pilch,Krzysztof Szczałuba,Monika Bielecka,Monika Kugaudo,Anna Jakubiuk-Tomaszuk,Tatiana Chilarska,Katarzyna Wołyńska,Natalia Braun-Walicka,Robert Śmigiel

doi:10.1007/s13353-021-00636-1

Abstract

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

Highlights

IntroductionMowat-Wilson syndrome (MWS, OMIM 235,730) is a rare congenital disorder characterized by developmental delay with subsequent severe intellectual disability, distinctive facial features, and characteristic congenital anomalies
Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities
Mowat-Wilson syndrome (MWS, OMIM 235,730) is a rare congenital disorder characterized by developmental delay with subsequent severe intellectual disability, distinctive facial features, and characteristic congenital anomalies

Summary

Introduction

Mowat-Wilson syndrome (MWS, OMIM 235,730) is a rare congenital disorder characterized by developmental delay with subsequent severe intellectual disability, distinctive facial features, and characteristic congenital anomalies. The patients have severe speech delay, and language is usually restricted to few words. The behavioral phenotype is similar to that found in Angelman syndrome. Individuals with MWS seem happy and easy-going. The phenotype includes stereotypical movements and various congenital malformations, such as Hirschsprung disease, heart defects, corpus callosum agenesis, genitourinary system anomalies, and eye abnormalities. Facial dysmorphism in MWS becomes unique as it evolves with age

Methods

Results

Discussion

Conclusion