Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder.

ABSTRACT: No genetic basis is currently established that differentiates hypermobility spectrum disorders (HSD) from hypermobile Ehlers-Danlos syndrome (hEDS). Diagnosis is entirely based on clinical parameters with high overlap, leading to frequent misdiagnosis of these two phenotypes. This study presents a landscape of DNA mutations through whole-exome sequencing of patients clinically diagnosed with generalized HSD. In this study, three genes (MUC3A, RHBG, and ZNF717) were mutated in all five patients evaluated. The functional enrichment analysis on all 1162 mutated genes identified the extracellular matrix (ECM) structural constituent as the primary overrepresented molecular function. Ingenuity pathway analysis identified relevant bio-functions, such as the organization of EC

SUBMITTER: Alanis-Funes GJ 

PROVIDER: S-EPMC9319525 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature