19. Phase determination and demonstration of parental mosaicism of intragenic PRKN deletions initially identified by chromosomal microarray analysis

Abstract

Biallelic variants in PRKN are associated with autosomal recessive (AR) juvenile Parkinson disease. Various PRKN mutation types cause disease, however deletions are frequent due to its large size (∼1.4Mb) and its localization within a common fragile site. Here we present a case with biallelic intragenic PRKN deletions identified using chromosomal microarray (CMA) in a newborn. CMA was performed on a six-day old female with a family history of a 17q12 duplication. This maternal 1.5 Mb duplication was observed, along with two non-overlapping intragenic deletions encompassing exons 2 (227 Kb) and 7 (140 Kb) of PRKN.