Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Zweier, Christiane; Thiel, Christian T.; Dufke, Andreas; Crow, Yanick J.; Meinecke, Peter; Suri, Mohnish; Ala‐Mello, Sirpa; Beemer, Frits A.; Bernasconi, Sergio; Bianchi, Paolo Pietro; Bier, August; Devriendt, Koen; Dimitrov, Boyan; Firth, Helen V.; Gallagher, Renata C.; Garavelli, Livia; Gillessen‐Kaesbach, Gabriele; Hudgins, Louanne; Kääriäinen, Helena; Karstens, Susan; Krantz, Ian D.; Mannhardt, Anca; Medne, Līvija; Mücke, J.; Kibæk, Maria; Krogh, Lotte Nylandsted; Peippo, Maarit; Rittinger, Olaf; Schulz, Stefan; Schelley, Susan; Temple, I. Karen; Dennis, N R; Knaap, Marjo S. van der; Wheeler, Patricia G.; Yerushalmi, Baruch; Zenker, Martin; Seidel, Heide; Lachmeijer, Augusta M. A.; Prescott, Trine; Kraus, Cornelia; Lowry, R. Brian; Rauch, Anita

doi:10.1016/j.ejmg.2005.01.003

Cited by 123 publications

(195 citation statements)

References 22 publications

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“…3,4 In 2002 Zweier et al 5 further delineated the phenotype of MWS with or without HSCR, invariably characterized by ZEB2 gene defects, and proposed that the condition be named Mowat-Wilson syndrome. More than 300 patients have been reported so far [6][7][8][9][10][11][12][13][14][15][16][17] (additional reviewed articles are listed in Supplementary File S1 online).…”

Section: Mowat-wilson Syndrome (Mws) (Omim # 235730) Ismentioning

confidence: 99%

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

Ivanovski

Djurić

Caraffi

et al. 2018

Genetics in Medicine

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120

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ORIGINAL RESEARCH ARTICLEPurpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS. Methods:In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations. Conclusion:Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.

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Section: Mowat-wilson Syndrome (Mws) (Omim # 235730) Ismentioning

confidence: 99%

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

Ivanovski

Djurić

Caraffi

et al. 2018

Genetics in Medicine

Self Cite

120

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show abstract

“…Mowat-Wilson syndrome can present with findings that suggest AS, 50 including happy affect, prominent mandible, diminished speech, microcephaly, and constipation. Mowat-Wilson syndrome typically results from heterozygous mutations in ZEB2.…”

Section: Differential Diagnosismentioning

confidence: 99%

Clinical and genetic aspects of Angelman syndrome

Williams

Driscoll

Dagli

2010

Genetics in Medicine

265

229

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“…La mayoría de los casos notifi cados hasta el momento son esporádicos, por lo tanto, el riesgo de recurrencia es bajo en padres sanos. Sin embargo, algunos casos excepcionales se han reportado hermanos afectados, posiblemente por un mosaicismo paternal o en la línea germinal 7 . Las características clínicas en el síndrome de Mowat-Wilson son muy particulares y el diagnóstico se sustenta en ellas, dado que el análisis molecular de ZEB2 no es de fácil acceso desde Latinoamérica y en Estados Unidos y Europa tiene altos costos.…”

Section: Discussionunclassified

Síndrome de Mowat-Wilson: caso clínico

2012

Rev. chil. pediatr.

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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Cited by 123 publications

References 22 publications

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

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

Clinical and genetic aspects of Angelman syndrome

Síndrome de Mowat-Wilson: caso clínico

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