Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints. Issue 8 (19th June 2019)

• Record Type: Journal Article
• Authors: Shi, Lisong; Bai, Yan; Kharbutli, Yara; Oza, Andrea M.; Amr, Sami S.; Edelmann, Lisa; Mehta, Lakshmi; Scott, Stuart A.
• Is Part Of: Molecular genetics & genomic medicine. Volume 7:Issue 8(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-06-19
• Subjects: allele‐specific PCR -- CATSPER2 -- chromosomal microarray -- copy number variation -- deafness‐infertility syndrome -- prenatal diagnosis -- STRC; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.806
• Languages: English
• ISSNs: 2324-9269

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. 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.