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

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概要

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• 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.

• 神戸大学の論文

著者

• Myeong Jin

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Ahmad Hamim

  Department Of Public Health Kobe University Graduate School Of Medicine

• TEGUH HARYO

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• Koterazawa Keiko

  Himeji City Center for the Handicapped

• Myeong Jin

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Teguh Haryo

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

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