Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

Abstract

Ehlers– Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders. Many types of EDS have been discovered over the past years. Although EDS is characterized by shared clinical features, including joint hypermobility, skin hyperextensibility, and tissue fragility, EDS international classification identified 13 types of EDS by underlying mutated genes and specific clinical characteristics.1 Among them, noncollagenous classicallike EDS (clEDS; Online Mendelian Inheritance in Man #606408) is caused by tenascinX deficiency resulting from homozygous or compound heterozygous mutations in the TNXB gene.1 Here, we report a pregnant case of clEDS with a novel TNXB mutation. A 31yearold, 4 months’ pregnant Japanese woman was referred with the main complaints of skin hyperextensibility and joint hypermobility (Figure 1a; Beighton score, 9/9) on the recommendation of