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| Skeletal dysplasia v1.49 | MBTPS2 | chirag patel Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.49 | MBTPS2 | chirag patel Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.49 | MBTPS2 | chirag patel Classified gene: MBTPS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.49 | MBTPS2 | chirag patel Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.48 | MBTPS2 |
chirag patel gene: MBTPS2 was added gene: MBTPS2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MBTPS2 were set to 37305034; 34093655; 27380894 Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type 19, MONDO:0049223 Review for gene: MBTPS2 was set to GREEN Added comment: PMID 27380894 and PMID 37305034 report X-linked osteogenesis imperfecta caused by MBTPS2 missense variants. PMID 27380894 describes 8 affected individuals from two unrelated families with variants p.N459S and p.L505F; PMID 37305034 adds a third family with a p.Glu172Asp variant and includes the earlier families as controls. All three families present prenatal fractures, short stature, bowing of long bones, scoliosis and blue/white sclerae. Patient fibroblasts/osteoblasts show impaired regulated intramembrane proteolysis, reduced type I collagen secretion and altered ER morphology. CHO‑M19 luciferase reporter assays demonstrate reduced ATF6 activation. RNA‑seq, lipidomic profiling and electron microscopy reveal transcriptomic and cellular deficits. qRT‑PCR of bone‑development genes and immunocytochemistry show reduced collagen deposition. Sources: Literature |
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