Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

BMC Pediatr. 2021 Jun 30;21(1):293. doi: 10.1186/s12887-021-02767-0.

Abstract

Background: The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter.

Presentation of cases: We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans.

Conclusions: This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

Keywords: B4GALT7 gene; Case report; Connective tissue disorder; Spondylodysplastic Ehlers-Danlos syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dwarfism*
  • Ehlers-Danlos Syndrome* / diagnosis
  • Ehlers-Danlos Syndrome* / genetics
  • Humans
  • Joint Instability* / genetics
  • Male
  • Phenotype
  • Siblings