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RAB33B-Related Smith-McCort Dysplasia 2

RAB33B-Related Smith-McCort Dysplasia 2 Deep Research Fallback

⚠️ Fallback MONDO:0014087

RAB33B-Related Smith-McCort Dysplasia 2 Deep Research Fallback

Scope

No provider-generated deep research artifact was present on the WP-068 branch. This fallback audit documents the literature scope used to curate and review the RAB33B-related entry from cached PubMed references.

Evidence Scope Used For Curation

  • PMID:23042644 for the RAB33B Smith-McCort dysplasia report, autosomal recessive spondylo-epi-metaphyseal dysplasia, normal intelligence and no microcephaly distinction from Dyggve-Melchior-Clausen syndrome, and reduced Rab33b protein evidence.
  • PMID:28127940 for three additional RAB33B-related SMC patients, novel homozygous and compound-heterozygous variants, and the shared spondylo-epi-metaphyseal phenotype with lacy ilia.
  • PMID:31408960 for RAB33B Golgi localization and membrane-trafficking/autophagy biology.
  • PMID:37359363 for the Rab33b knock-in model linking the disorder to osteoclast dysfunction, protein glycosylation abnormalities, bone resorption defects, and short-trunk/short-bone skeletal-growth features.
  • PMID:41506134 for functional evidence that disease-causing RAB33B variants mislocalize away from Golgi membranes and impair autophagosome formation.

Curation Conclusions

The supported model is biallelic RAB33B dysfunction causing a Golgi Rab GTPase defect with Golgi mislocalization, reduced protein stability, impaired autophagy-associated membrane trafficking, and downstream osteoclast/protein glycosylation abnormalities. The phenotype should focus on spondylo-epi-metaphyseal skeletal dysplasia and short stature while preserving the reported distinction that classic Smith-McCort dysplasia has normal cognition and no microcephaly.