EP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.3

Abstract

Autosomal recessive Deafness-Infertility syndrome (DIS) is caused by biallelic loss of the 15q15.3 locus, containing the STRC and CATSPER2 genes; it is estimated that at least 1-1.6% of the population carry a recurrent heterozygous large deletion removing these genes. In addition, smaller deletions are also frequently observed, and isolated deletions of STRC are a common cause of autosomal recessive sensorineural hearing loss (SNHL). However, such deletions and other structural rearrangements are challenging to detect due to a tandem duplication of the locus containing nearly identical pseudogenes.