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

Autori
Sasso, Antun ; Paučić-Kirinčić, 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, znanstveni

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

Sažetak
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

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA