Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included theCATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboringSTRC hearing loss gene was also affected. Therefore, we developed a novel allele ‐specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from theSTRC transcription start site. AbstractHere, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included theCATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboringSTRC hearing loss gene was also affected. Therefore, we developed a novel allele ‐specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from theSTRC transcription start site.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: LETTER TO THE EDITOR Source Type: research