國家衛生研究院 NHRI:Item 3990099045/5439
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    题名: Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
    作者: Liao, HM;Niu, DM;Chen, YJ;Fang, JS;Chen, SJ;Chen, CH
    贡献者: Division of Mental Health and Addiction Medicine
    摘要: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of similar to 0.92Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.
    日期: 2011-01
    關聯: Journal of Human Genetics. 2011 Jan;56(1):8-11.
    Link to: http://dx.doi.org/10.1038/jhg.2010.121
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1434-5161&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000286585200004
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=79251613797
    显示于类别:[陳嘉祥(2009-2013)] 期刊論文

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