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

Introduction: Biallelic variants in the 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, variants have been associated with much milder phenotypes of skeletal dysplasia. Our report describes one such individual with a novel 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 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 variants and suggests the existence of a phenotypic spectrum.