Open AccessA Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
Author(s) -
Halinna Dornelles-Wawruk,
Romina Soledad Heredia,
Milton Rego de Paula-Júnior,
Maria Terezinha Cardoso,
Raphael Severino Bonadio,
Bianca F. dos Reis,
Aline PicTaylor,
Silviene Fabiana de Oliveira,
Juliana F. Mazzeu
Publication year - 2019
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000500397
Subject(s) - chromosomal translocation , genetics , karyotype , biology , intellectual disability , breakpoint , gene , microarray , microarray analysis techniques , phenotype , chromosome , bioinformatics , gene expression
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.