A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
Mol Syndromol
; 14(6): 498-503, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-38058750
ABSTRACT
Introduction:
Biallelic variants in the SCL35D1 gene 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Syndromol
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Turquia