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

Abstract

Abstract Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STRC 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 the STRC transcription start site.

Keywords

• allele‐specific PCR
• CATSPER2
• chromosomal microarray
• copy number variation
• deafness‐infertility syndrome
• prenatal diagnosis