Schanen N C
Department of Human Genetics and Pediatrics and the Mental Retardation Research Center, University of California, Los Angeles, School of Medicine, 90095-7088, USA.
J Child Neurol. 1999 Dec;14(12):806-14. doi: 10.1177/088307389901401207.
Rett syndrome is a neurodevelopmental disorder affecting 1 in 10,000 to 15,000 females worldwide. Apparently normal at birth, girls with Rett syndrome undergo developmental regression and acquire a neurologic and behavioral profile that has been used to define diagnostic criteria for the disorder. Neurochemical and anatomic alterations indicate that Rett syndrome appears to result from an arrest of normal neuronal maturation. Although Rett syndrome generally occurs sporadically, rare familial recurrences indicate a genetic basis for the disorder. Data from familial recurrences are consistent with an X-linked dominant locus causing the classic phenotype in female patients and a distinct, more severe phenotype in hemizygous male patients. Exclusion mapping data from rare kindreds with recurrent Rett syndrome localize the gene to the distal long arm of the X chromosome (Xq27.3-Xqter).
雷特综合征是一种神经发育障碍，全球每10000至15000名女性中就有1人受其影响。患有雷特综合征的女孩出生时看似正常，但随后会出现发育倒退，并呈现出一种神经学和行为学特征，这些特征已被用于定义该疾病的诊断标准。神经化学和解剖学改变表明，雷特综合征似乎是由正常神经元成熟停滞所致。虽然雷特综合征通常为散发性，但罕见的家族复发表明该疾病存在遗传基础。家族复发的数据与一个X连锁显性基因座相符，该基因座在女性患者中导致典型表型，在半合子男性患者中导致一种不同的、更严重的表型。来自罕见的复发性雷特综合征家族的排除性定位数据将该基因定位到X染色体长臂远端（Xq27.3-Xqter）。
