A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene


Esen T. E., Uzun Ö. Ü., Ceylan A. C.

Molecular Syndromology, vol.14, no.6, pp.498-503, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 6
  • Publication Date: 2023
  • Doi Number: 10.1159/000530798
  • Journal Name: Molecular Syndromology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.498-503
  • Keywords: Schneckenbecken dysplasia, SLC35D1, Snail-shaped ilia, Spondylodysplastic dysplasias
  • Ankara Yıldırım Beyazıt University Affiliated: No

Abstract

Introduction: Biallelic variants in the SCL35D1 ge7ne have been originally associated with a severe skeletal dysplasia called "Schneckenbecken dysplasia"because of the resemblance of the pelvic shape to a snail. More recently, SLC35D1 variants have been associated with much milder phenotypes of skeletal dysplasia. Our report describes one such individual with a novel SLC35D1 variant. Case Presentation: A 17-year-old male with a coarse face and short stature was referred to our clinic. On his radiographic imaging, shortness of the long bones and metaphyseal flaring were detected. Using a clinical exome panel, we discovered a novel homozygous missense variant in the SLC35D1 gene, c.899G>T (p.Gly300Val). Conclusions: We identified a biallelic variant that was causative for a mild skeletal dysplasia and showed its phenotypic effects. Our observation confirms the existence of nonlethal skeletal dysplasias associated with biallelic SLC35D1 variants and suggests the existence of a phenotypic spectrum.