title: tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.
abstract: Identification of genes affected by disease-associated rare chromosomal rearrangements has led to the cloning of several disease genes. Here we have used a simple approach involving allele-specific RT-PCR-based detection of gene expression to identify a gene affected by a balanced autosome;autosome translocation. We identified a transcribed SNP (tSNP), c.68G-->A, present in a novel untranslated exon of the CLDN14 gene in a male patient with mental retardation who had a balanced t(13;21) chromosomal translocation. We determined an allelic loss of expression of the CLDN14 gene isoform at the 21q22.1 chromosomal breakpoint. Although additional work is necessary to explore a possible function of the novel CLDN14 isoform in brain development and function and the potential pathogenic consequences of its disruption in this patient, the result clearly demonstrates the utility of a tSNP-based detection of allelic loss of gene expression in studies involving chromosomal rearrangements.
authors.affiliation: J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
authors.forename: Gregory F
authors.initials: GF
authors.lastname: Guzauskas
authors.forename: Kennedy
authors.initials: K
authors.lastname: Ukadike
authors.forename: Lynn
authors.initials: L
authors.lastname: Rimsky
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
mesh_terms: D001921:Brain / Q000254:growth & development / Q000502:physiology; D057167:Claudins; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology; D008722:Methods; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D057167:Claudins; D008565:Membrane Proteins; C422064:claudin 14