A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Molecular Syndromology, cilt.14, sa.6, ss.498-503, 2023 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 6
- Basım Tarihi: 2023
- Doi Numarası: 10.1159/000530798
- Dergi Adı: Molecular Syndromology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.498-503
- Anahtar Kelimeler: Schneckenbecken dysplasia, SLC35D1, Snail-shaped ilia, Spondylodysplastic dysplasias
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
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.