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

Journal of Child Neurology
Esra KilicKoray Boduroğlu

Abstract

Mowat-Wilson syndrome is a multiple congenital anomaly and intellectual disability syndrome characterized by a unique face and various other structural and functional anomalies. The condition is caused by de novo heterozygous mutations or deletions in ZEB2 gene located at 2q22. ZEB2 encodes Sip1 protein, which acts during central nervous system development as an important transcription factor. Herein, we report on 3 novel mutations in 6 patients with the syndrome, with an overview of corresponding clinical findings. Growth retardation and Hirschsprung disease were less common in the present cohort. One patient with a novel mutation p.Y489X had no associated anomalies except the characteristic facial and neurobehavioral phenotype. Reporting new patients with novel mutations would contribute to better delineation of the syndrome and would help clinicians establish formal diagnostic criteria and genotype-phenotype correlations.

References

May 15, 2003·Journal of Medical Genetics·D R MowatM Goossens
Jan 5, 2007·Human Mutation·Florence Dastot-Le MoalMichel Goossens
Oct 21, 2009·American Journal of Medical Genetics. Part a·Carol J SaundersHolly H Ardinger
Jan 17, 2012·American Journal of Medical Genetics. Part a·Elizabeth EvansMeredith Wilson
Apr 10, 2014·American Journal of Medical Genetics. Part a·Yasukazu YamadaNobuaki Wakamatsu
Apr 23, 2015·American Journal of Medical Genetics. Part a·A BourchanyL Faivre

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Citations

Nov 3, 2016·Pediatric Research·Consolato Maria SergiDavid D Eisenstat
Jul 3, 2021·Genes·Duccio Maria CordelliEmilia Ricci
Sep 2, 2021·Pharmacogenomics and Personalized Medicine·Lin WeiWenying Nie

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Methods Mentioned

BETA
PCR

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Ensemble

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