简短报告：男性雷特综合征的系统评价
Brief report: systematic review of Rett syndrome in males.
作者信息
Reichow Brian, George-Puskar Annie, Lutz Tara, Smith Isaac C, Volkmar Fred R
机构信息
AJ Pappanikou Center for Excellence in Developmental Disabilities, University of Connecticut Health Center, Farmington, CT, USA.
University of Florida, 1345Q Norman Hall, PO Box 117050, Gainesville, FL, 32661-7050, USA.
出版信息
J Autism Dev Disord. 2015 Oct;45(10):3377-83. doi: 10.1007/s10803-015-2519-1.
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.
瑞特综合征（RTT）是一种神经遗传性疾病，其特征是在一段典型发育之后，先前获得的技能丧失。曾经认为该病仅发生于女性，但现在报告的男性RTT病例数量不断增加。本系统评价纳入了36篇描述57例男性RTT病例的文章。56%的病例存在MECP2基因突变，68%的病例报告有其他基因异常。这是对已发表的男性RTT患者报告的首次综述。
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