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

Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott

Research output: Contribution to journalLetterpeer-review

3 Scopus citations

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.

Original languageEnglish
Article numbere806
JournalMolecular genetics & genomic medicine
Volume7
Issue number8
DOIs
StatePublished - Aug 2019

Keywords

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

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