Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Abstract

Ehlers-Danlos syndrome (EDS) refers to a group of inherited connective tissue disorders with genetic and clinical heterogeneity. The hallmarks of EDS are tissue fragility, skin hyperextensibility, and joint hypermobility. The prevailing 2017 EDS Nosology recognizes 13 subtypes based on clinical criteria and genotype. 1 The classical EDS subtype (cEDS, MIM #130000, #130010) is defined by two major criteria: (1) skin hyperextensibility plus atrophic scarring and (2) generalized joint hypermobility (gJHM), as well as several minor criteria comprising easy bruising, soft and doughy skin, skin fragility, molluscoid pseudotumors, subcutaneous spheroids, hernia, complications of gJHM, epicanthal folds and a first-degree relative who meets clinical cEDS criteria. The presence of two major