Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Neurogenetics. 2012 Nov;13(4):333-9. doi: 10.1007/s10048-012-0340-y. Epub 2012 Aug 14.
Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
脆性 X 综合征是最常见的 X 连锁智力障碍形式，由 FMR1 基因的转录沉默引起。到目前为止，FMR1 基因重复的表型后果还没有很好地描述。在本报告中，我们描述了仅涉及 FMR1 基因重复的两名女性的临床特征。此外，我们还描述了两名 FMR1 缺失患者的表型，并表明 FMR1 拷贝数的缺失和增加都可能导致重叠的神经发育表型。我们的报告支持这样一种观点，即 FMR1 基因剂量对于正常的神经认知功能很重要。
