FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION
FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION
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DOI：
10.1038/ng0892-341
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发表时间：
1992-08-01
期刊：
影响因子：
30.8
通讯作者：
MULLEY, JC
中科院分区：
文献类型：
--
作者：
GEDEON, AK;BAKER, E;MULLEY, JC
我们描述了一名具有脆性 X 综合征典型临床特征的患者，但没有脆性 X 的细胞遗传学表达或扩增的 CCG 三核苷酸重复片段。该患者存在先前未表征的亚显微缺失，包括 CCG 重复序列、整个 FMR1 基因和约 2.5 兆碱基的侧翼序列。这一发现证实了脆性 X 表型可以存在，无需 CCG 重复扩增或脆性 X 的细胞遗传学表达，并且脆性 X 综合征是一种涉及 FMR1 的遗传同质性疾病。我们还在患者的母亲中发现了随机 X 失活，她被证明是这种缺失的携带者。
We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.