Ehlers-Danlos Syndrome with B4GALT7 Mutation: A Case Report and Literature Review

Abstract

Ehlers-Danlos syndrome is a complex hereditary connective tissue disease. It is caused by multiple gene mutations which result in the dysfunction of Mucopolysaccharide synthesis and affect the function of extracellular matrix. It is characterized by joint hypermobility, skin hyperextension and tissue fragility. Among all subtypes of Ehlers-Danlos syndrome, one type caused by B4GALT7 gene mutation can also manifest short stature, abnormalities of forearm bone and joint, curved limbs and so on. So far, there are only 8 cases reported worldwide on this type of Ehlers-Danlos syndrome. In this paper, we reported a new case of B4GALT7 gene mutation patient diagnosed in China and two new amino acid mutations p.(Arg141Gln) and p.(Arg234His) were found by high-throughput sequencing technology. Further, we do a literature review, compared all the clinical phenotype and genotype of previously reported cases and this case, clarify the common manifestations, diagnostic criteria and pathogenic genes of this type of Eh-lers-Danlos syndrome. Also, we compared the different clinical manifestations caused by different sites’ mutations of the B4GALT7 gene, tried to explain the effects of different sites’ mutations on protein function. All above can help clinicians to improve their understanding on this rare disease, increase the diagnosis rate, and improve the prognosis of this kind of patients as much as possible.