Long intergenic noncoding RNAs (lincRNAs) are a class of noncoding RNAs implicated in several biological processes. LincRNA 299 (LINC00299) maps to 2p25.1 and its function is still unknown. However, this gene has been proposed as a candidate for intellectual disability (ID) in a patient with a balanced translocation where the breakpoint disrupted its ORF. Here, we describe a new case of LINC00299 disruption associated with ID. The individual, a 42-year-old woman, was referred to the clinical geneticist because of her son who had severe syndromic ID. G-banding and chromosomal microarray analysis were performed. Karyotyping of the boy revealed an extranumerary derivative chromosome identified as an unbalanced translocation between chromosomes 2 and 9 of maternal origin. The mother's karyotype showed a balanced translocation 46,XX,t(2;9)(p25;q13). Chromosomal microarray indicated a disruption of LINC00299. These data corroborate the role of LINC00299 as a causative gene for ID and broadens the spectrum of LINC00299-related phenotypes.

中文翻译：

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平衡性易位t（2; 9）（p25; q13）破坏智障患者的LINC00299基因。

长的基因间非编码RNA（lincRNA）是一类涉及若干生物学过程的非编码RNA。LincRNA 299（LINC00299）映射到2p25.1，其功能仍然未知。但是，该基因已被提议作为平衡易位患者的智能障碍（ID）候选者，在该患者中，断点破坏了其ORF。在这里，我们描述了与ID相关的LINC00299中断的新情况。该个体是一名42岁的女性，因为其儿子患有严重的综合征ID而被转诊给临床遗传学家。进行了G带和染色体微阵列分析。该男孩的核型分析揭示了一条外生衍生染色体，该染色体被鉴定为产妇来源的染色体2和9之间的不平衡易位。母亲的核型显示出平衡的易位46，XX，t（2; 9）（p25; q13）。染色体微阵列表明LINC00299被破坏。这些数据证实了LINC00299作为ID的致病基因的作用，并拓宽了LINC00299相关表型的范围。