engleski

Mowat-Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2373del C ; p.T791fsX816)

Introduction: Mowat-Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation. Case report: This report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816). This mutation has not been reported before. The literature is reviewed. Conclusion: Mowat-Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations

Mowat– Wilson syndrome - Congenital syndrome - Hirschsprung disease - Seizures - Mental retardation - ZFHX1B gene

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