Naslov
Mowat–Wilson syndrome: The clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816)

Autori
Sasso, Antun ; Paucić-Kirincić, Ela ; Kamber-Makek, Silvija ; Sindičić, Nada ; Brajnović-Zaputović, Sanja ; Brajenović-Milić, Bojana

Izvornik
Child's nervous system (0256-7040) 24 (2008), 5; 615-618

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Mowat–Wilson syndrome ; Congenital syndrome ; Hirschsprung disease ; Seizures ; Mental retardation ; ZFHX1B gene

Sažetak
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. 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. 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.

Izvorni jezik
Engleski

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