The Prader-Willi phenotype of fragile X syndrome
The Prader-Willi phenotype of fragile X syndrome
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DOI：
10.1097/01.dbp.0000267563.18952.c9
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发表时间：
2007-04-01
影响因子：
2.4
通讯作者：
Hagerman, Randi J.
中科院分区：
文献类型：
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作者：
Nowicki, Stephen T.;Tassone, Flora;Hagerman, Randi J.
脆性X综合征（FXS）的Prader-Willi表型（PWP）与肥胖和摄食过多相关，类似于Prader-Willi综合征（PWS），但在15 q11 -13没有细胞遗传学或甲基化异常。本文报告了13例以肥胖和暴食为特征的PWP和FXS。9例已进入青春期的病例中有5例出现青春期延迟，13例中有7例出现阴茎或睾丸变小，13例中有7例出现婴儿张力减退和/或吸吮不良。13例中有10例出现自闭症谱系障碍，13例中有7例诊断为自闭症。我们研究了细胞质相互作用FMR 1蛋白（CYFIP）的表达，这是一种与FMR 1蛋白（FMRP）相互作用的蛋白质，因为CYFIP的基因位于15 q11 -13。与没有FXS的个体相比，我们的PWP和FXS患者中的CYFIP mRNA水平显著降低（p <0.001），并且与没有PWP的FXS个体相比也显著降低（p = 0.03）。
The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11-13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13 cases, and infant hypotonia and/or a poor suck in seven of 13 cases. Autism spectrum disorder occurred in 10 of 13 cases, and autism was diagnosed in seven of 13 cases. We investigated cytoplasmic interacting FMR1 protein (CYFIP) expression, which is a protein that interacts with FMR1 protein (FMRP) because the gene for CYFIP is located at 15q11-13. CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03).