The nucleotide sugar transporter Solute Carrier Family 35 member D1 (SLC35D1; OMIM# 610804) localizes to the endoplasmic reticulum and transports both UDP-glucuronic acid and UDP-N-acetylgalactosamine, two substrates for proteoglycan biosynthesis, with critical roles in chondrogenesis and skeletal development. Hiraoka, et al. reported in 2007 (PMID:17952091) that SLC35D1 is associated with autosomal recessive Schneckenbecken dysplasia (OMIM#269250), based on a knock-out mouse model. The same group also reported on individuals with Schneckenbecken dysplasia and severe skeletal phenotypes with the typical ilia configuration and increased neonatal death, who have nonsense, frameshift, and splicing variants in SLC35D1, resulting in truncated proteins (PMID:19508970). Other reports (PMID:31423530, 35934917, 38058750) included individuals ranging from 4 to 31 years old, who all had missense variants, and had typical skeletal findings, except for the ilia phenotype. This condition was identified as Schneckenbecken-like dysplasia. The association of the SLC35D1 gene with Schneckenbecken dysplasia is strongly supported by functional evidence, including studies on non-patient cells (yeast microsomes) (PMID:17952091) and biochemical evidence (PMID: 31423530). This association is further corroborated by genetic evidence with replication in the literature over time. As a result, the association of SLC35D1 with autosomal recessive Schneckenbecken dysplasia has been curated as Definitive by the Prenatal Gene Curation Expert Panel on 4/23/24
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