Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome
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概要
- 論文の詳細を見る
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.
- 神戸大学医学部の論文
- 2007-08-00
著者
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李 明鎭
神戸大学大学院 医学系研究科 公衆衛生学分野
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Lee Myeong
神戸大学 医学研究科遺伝疫学
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Lee Myeong jin
Department Of Public Health Kobe University Graduate School Of Medicine
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