Robust and easy-to-use STR-based method for 15q11-q13 rearrangements identification

Abstract The rearrangements of the 15q11-q13 region such as deletions, duplications, uniparental disomies (UPDs), and translocations caused different neurodevelopment phenotypes including Prader-Willy and Angelman syndromes, 5q11-q13 duplication syndrome, autism spectrum disorders. The aim of our study is to elaborate on the most universal, convenient, and informative molecular test for rapid detection of 15q11-q13 alterations in patients with suspected 15q associated disorders. Eight short tandem repeats (STR) markers within the 15q11.1-q13 locus and 1 STR from 15q21.1 in a combination with SNRPN gene qPCR allowed us to detect both copy number variations (deletions and duplications) and different types of UPDs, determining the origin and boundaries of the reorganization. The proposed strategy significantly improves medical genetic counseling for families - it allows the prediction of the disease severity, the estimation of genetic risks for families, and even applying the personalized approaches to therapy.