81000114

open access

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Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome

English (英語)

The Kobe journal of the medical sciences

53(4)

157-162

Kobe University School of Medicine

2007-08

2008-02-20

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly-mentalretardation complex caused by mutations in the Zinc Finger Homeobox 1 B gene(ZFHX1B). MWS has been reported in association with Hirschsprung disease (HSCR).MWS is sometimes difficult to diagnose clinically, especially when HSCR is absent.Thus, it is necessary to detect gene abnormalities at the molecular level. Here we reporttwo Japanese girls with MWS, who showed a distinct facial phenotype, severeintellectual disability and epileptic seizures. Major congenital anomalies of the patientswere very different. Patient 1 suffered from severe congenital heart disease, but did notshow apparent HSCR. Patient 2 suffered from typical HSCR and underwent surgicaltreatment, but did not have congenital heart disease. According to the gene analysisusing white blood cells, they had nonsense mutations in ZFHX1B, R695X and Q433X,respectively. In conclusion, molecular genetic analysis of ZFHX1B is important for adefinite diagnosis of MWS which has a wide phenotypic spectrum of congenitalanomalies.

nonsense mutation

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