一名女性患者的报告，该患者因染色体重排破坏了位于Xq12的OPHN1基因而导致智力发育迟缓及身材高大。
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.
作者信息
Menten Björn, Buysse Karen, Vermeulen Stefan, Meersschaut Valerie, Vandesompele Jo, Ng Bee L, Carter Nigel P, Mortier Geert R, Speleman Frank
机构信息
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
出版信息
Eur J Med Genet. 2007 Nov-Dec;50(6):446-54. doi: 10.1016/j.ejmg.2007.07.003. Epub 2007 Aug 6.
Abstract
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.
摘要
我们报告了一名患有智力发育迟缓、癫痫发作且骨龄超前、身材高大的患者，在该患者中发现了一种新发的明显平衡的染色体重排46,XX,t(X;9)(q12;p13.3)。我们使用基于流式分选衍生染色体的阵列比较基因组杂交（阵列描绘）以及随后的荧光原位杂交和定量聚合酶链反应分析，对两个断点进行了定位和测序。Xq12断点位于编码少突磷脂1（OPHN1）的基因内，而9p13.3断点位于基因密集区域内的一个非编码片段。Xq12断点对OPHN1的破坏被认为是先证者中观察到的异常表型的主要原因。
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