1. A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
- Author
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Bianca F. dos Reis, Romina Soledad Heredia, Halinna Dornelles-Wawruk, Maria Terezinha O. Cardoso, Silviene Fabiana de Oliveira, Raphael Severino Bonadio, Juliana F. Mazzeu, Aline Pic-Taylor, and Milton Rego de Paula-Júnior
- Subjects
Genetics ,Intergenic region ,Derivative chromosome ,Microarray ,Microarray analysis techniques ,Novel Insights from Clinical Practice ,Breakpoint ,Chromosomal translocation ,Karyotype ,Biology ,Gene ,Genetics (clinical) - Abstract
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.
- Published
- 2019