Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

ABSTRACT: Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene expression and function and play a role in the clinical presentation of various genetic conditions. This study employed a topologically associating domain (TAD) analysis approach to investigate position effects of chromosomal rearrangements on selected candidate genes mapped to 22q13 in 81 individuals with PMS. Data collected were correlated with clinical information from these individual

SUBMITTER: Srikanth S 

PROVIDER: S-EPMC8259982 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature