Research & Literature

Mowat-Wilson syndrome: neurological and molecular study in seven patients.

Paz JA, Kim CA, Goossens M, et al.

Arquivos de neuro-psiquiatria 2015; (73(1)):12-7.

Sleep disturbance in Mowat-Wilson syndrome.

Evans E, Mowat D, Wilson M, Einfeld S

American journal of medical genetics. Part A 2016; (170(3)):654-60 doi:10.1002/ajmg.a.37502.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Babkina N, Deignan JL, Lee H, et al.

European journal of medical genetics 2016; (59(2)):70-4.

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

Kilic E, Cetinkaya A, Utine GE, Boduroğlu K

Journal of child neurology 2016; (31(7)):913-7 doi:10.1177/0883073815627884.

Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination.

Wu LM, Wang J, Conidi A, et al.

Nature neuroscience 2016; (19(8)):1060-72 doi:10.1038/nn.4322.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(6)):691-700 doi:10.1038/gim.2016.176.

Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome.

Niemczyk J, Einfeld S, Mowat D, et al.

Research in developmental disabilities 2017; (62()):230-237 doi:10.1016/j.ridd.2017.01.006.

Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.

Jiang Q, Zhang X, Ma Y, et al.

Clinical case reports 2017; (5(1)):9-13 doi:10.1002/ccr3.741.

GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.

Arya R, Spaeth C, Gilbert DL, et al.

Epileptic disorders : international epilepsy journal with videotape 2017; (19(1)):67-75 doi:10.1684/epd.2017.0888.

Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Rogac M, Kitanovski L, Writzl K

Clinical dysmorphology 2017; (26(3)):185-186 doi:10.1097/MCD.0000000000000174.

Electrical status epilepticus during sleep in Mowat-Wilson syndrome.

Bonanni P, Negrin S, Volzone A, et al.

Brain & development 2017; (39(9)):727-734 doi:10.1016/j.braindev.2017.04.013.

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.

Baxter AL, Vivian JL, Hagelstrom RT, et al.

Molecular syndromology 2017; (8(4)):211-218 doi:10.1159/000473693.

Mowat-Wilson syndrome presenting with fever-associated seizures.

Seo SE, Kim SH, Lee ST, et al.

Epileptic disorders : international epilepsy journal with videotape 2017; (19(4)):481-485 doi:10.1684/epd.2017.0949.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(9)):965-975 doi:10.1038/gim.2017.221.

Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.

Cano Sierra JD, Mestra CF, Ronderos Dumit MA

Cardiology in the young 2018; (28(8)):1074-1076 doi:10.1017/S1047951118000689.

Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.

Gosso MF, Rohr C, Brun B, et al.

Human genome variation 2018; (5()):21 doi:10.1038/s41439-018-0021-y.

[Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases].

Wang H, Yan YC, Li Q, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(5)):468-473.

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.

Di Pisa V, Provini F, Ubertiello S, et al.

Sleep medicine 2019; (61()):44-51 doi:10.1016/j.sleep.2019.04.011.

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Evans CA, Pinner J, Chan CY, et al.

American journal of medical genetics. Part A 2019; (179(10)):2152-2157 doi:10.1002/ajmg.a.61295.

Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders.

Monteiro S, Pinto J, Mira Coelho A, et al.

Neuropediatrics 2019; (50(6)):367-377 doi:10.1055/s-0039-1694797.

[Prenatal diagnosis of a fetus with Mowat-Wilson syndrome].

Hu R, Luo X, Li Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(12)):1203-1205 doi:10.3760/cma.j.issn.1003-9406.2019.12.013.

Mowat-Wilson syndrome in a Chinese population: A case series.

Ho S, Luk HM, Chung BH, et al.

American journal of medical genetics. Part A 2020; (182(6)):1336-1341 doi:10.1002/ajmg.a.61557.

Neuropathology of Mowat-Wilson Syndrome.

Conces MR, Hughes A, Pierson CR

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2020; (23(4)):322-325 doi:10.1177/1093526620903956.

A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.

Hu Y, Peng Q, Ma K, et al.

Journal of clinical laboratory analysis 2020; (34(9)):e23413 doi:10.1002/jcla.23413.

Mowat-Wilson syndrome: growth charts.

Ivanovski I, Djuric O, Broccoli S, et al.

Orphanet journal of rare diseases 2020; (15(1)):151 doi:10.1186/s13023-020-01418-4.

Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

Dagorno C, Pio L, Capri Y, et al.

Pediatric surgery international 2020; (36(11)):1309-1315 doi:10.1007/s00383-020-04751-8.

Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent variants.

Zou D, Wang L, Wen F, et al.

Experimental and therapeutic medicine 2020; (20(6)):263 doi:10.3892/etm.2020.9393.

Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.

Nosaki Y, Ohyama K, Watanabe M, et al.

Epilepsy & behavior reports 2020; (14()):100410 doi:10.1016/j.ebr.2020.100410.

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Sarı A, Bodakçi E, Armağan B, et al.

Turkish journal of medical sciences 2021; (51(4)):1695-1701 doi:10.3906/sag-2011-273.

[Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].

Zhang P, Hou Y, Liao P, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(5)):465-468 doi:10.3760/cma.j.cn511374-20200330-00217.

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

Jakubiak A, Szczałuba K, Badura-Stronka M, et al.

Journal of applied genetics 2021; (62(3)):477-485 doi:10.1007/s13353-021-00636-1.

A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Şenbil N, Arslan Z, Sayın Kocakap DB, Bilgili Y

Child neurology open 2021; (8()):2329048X211006511 doi:10.1177/2329048X211006511.

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

Wei L, Han X, Li X, et al.

Pharmacogenomics and personalized medicine 2021; (14()):1041-1045 doi:10.2147/PGPM.S320128.

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

Ricci E, Fetta A, Garavelli L, et al.

Epilepsy & behavior : E&B 2021; (124()):108315 doi:10.1016/j.yebeh.2021.108315.

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Tisserant E, Vitobello A, Callegarin D, et al.

Annals of human genetics 2022; (86(4)):171-180 doi:10.1111/ahg.12459.

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Fu Y, Xu W, Wang Q, et al.

Frontiers in genetics 2022; (13()):853183 doi:10.3389/fgene.2022.853183.

[Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome].

Ju Y, Ji TY

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):578-582 doi:10.3760/cma.j.cn112140-20220316-00210.

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Liu F, Wu Y, Li Z, Wan R

Clinica chimica acta; international journal of clinical chemistry 2022; (533()):31-39 doi:10.1016/j.cca.2022.06.004.

[Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome].

Zhou T, Wang Y, Liang D, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(9)):944-948 doi:10.3760/cma.j.cn511374-20210829-00703.

A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.

Deliloğlu B, Tüfekçi Ö, Tüzün F, et al.

The Turkish journal of pediatrics 2022; (64(4)):736-740.

Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong.

Li YY, Tse WT, Kong CW, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2024; (61(3)):391-399 doi:10.1177/10556656221128436.

Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Chi CS, Lee HF, Tsai CR

Brain sciences 2022; (12(9)) doi:10.3390/brainsci12091262.

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

Pachajoa H, Gomez-Pineda E, Giraldo-Ocampo S, Lores J

Pharmacogenomics and personalized medicine 2022; (15()):913-918 doi:10.2147/PGPM.S380908.

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.

Wu L, Wang J, Wang L, et al.

Frontiers in genetics 2022; (13()):1016677 doi:10.3389/fgene.2022.1016677.

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

Tronina A, Świerczyńska M, Filipek E

Medicina (Kaunas, Lithuania) 2023; (59(1)) doi:10.3390/medicina59010101.

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Zanotta N, Panzeri E, Minghetti S, et al.

Seizure 2024; (116()):151-155 doi:10.1016/j.seizure.2023.01.015.

Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.

Zhang X, Sun D, Xu Q, et al.

International journal of surgery (London, England) 2023; (109(8)):2509-2524 doi:10.1097/JS9.0000000000000473.

Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.

Han X, Zhang Q, Wang C, Han B

Pharmacogenomics and personalized medicine 2023; (16()):777-783 doi:10.2147/PGPM.S414161.

A Rare Cause of Intellectual Disability.

Oliveira Í, Fernandes A, Pereira M, et al.

Cureus 2024; (16(1)):e51451 doi:10.7759/cureus.51451.

ABCs begin with ZEB2.

Knox JJ, Cancro MP

Immunology and cell biology 2024; (102(4)):229-231 doi:10.1111/imcb.12744.

Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant.

Kuroda Y, Naruto T, Kurosawa K

American journal of medical genetics. Part A 2024; (194(12)):e63822 doi:10.1002/ajmg.a.63822.

[BCL11B associated disorder a case report in Mexican population. Case report].

Crisanto-López IE, Saldaña-Guerrer MP, Hernández-Camacho RM, Castro-Coyotl DM

Revista medica del Instituto Mexicano del Seguro Social 2024; (62(6)):1-7.

Clinical Characteristics and Postoperative Functional Outcomes in Children With Mowat-Wilson Syndrome and Hirschsprung's Disease: A Single-center Study.

Cheng T, Zhang Z, Zhou R, et al.

Journal of pediatric surgery 2025; (60(4)):162217 doi:10.1016/j.jpedsurg.2025.162217.

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.

Hossain WA, St Peter C, Lovell S, et al.

International journal of molecular sciences 2025; (26(3)) doi:10.3390/ijms26031307.

ZEB2 signaling is essential for ureteral smooth muscle cell differentiation and maintenance.

Kumar S, Fan X, Pattam H, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.02.23.639741.

Commentary - Mowat-Wilson Syndrome in Hirschsprung: Something Special or Just a Generic Problem?

Croaker GDH

Journal of pediatric surgery 2025; (60(4)):162272 doi:10.1016/j.jpedsurg.2025.162272.

Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.

Ge Y, Liu L, Wu L, et al.

Scientific reports 2025; (15(1)):30890 doi:10.1038/s41598-025-16542-z.

Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.

Ju Y, Ji TY

Epileptic disorders : international epilepsy journal with videotape 2026; (28(2)):344-358 doi:10.1002/epd2.70149.

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

Kumar S, Fan X, Pattam H, et al.

PLoS genetics 2026; (22(1)):e1012028 doi:10.1371/journal.pgen.1012028.