Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).

ABSTRACT

Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole-exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly monitored; and three de novo diagnostic variants, namely COL5A1 NM_001278074.1 c.4609-2A>C, COL3A1 NM_000090.3 c.3554G>T(p.Gly1185Val), and COL1A1 NM_000088.3 c.545G>T(p.Gly182Val) were identified from them, respectively. The findings in this study expanded the mutation spectrum of EDS and strengthened the efficiency of WES in the differential diagnosis on disorders with overlapping phenotypes and various pathogenesis.