User:JillianSherer/sandbox

Osteogenesis Imperfecta - "brittle bone disease"

5' end article: Chulaluck Kuptanon


 * 1) genetic disorder that is mainly caused by dominant mutations in the COL1A1 and COL1A2 genes
 * 2) Defects in formation of collagen 1
 * 3) autosomal recessive disease caused by mutations in CRTAP, BMP1, CREB3L1, IFITM5, FKBP10, LEPRE1, PPIB, SP7, PLOD2, TMEM38B, SERPINF, SERPINH1, SEC24D, SPARC, WNT1
 * 4) Defects in the proteins that interact with collagen
 * 5) X-linked version of the disease was recently found caused by mutations on the MBTPS2 gene
 * 6) case report was done on two siblings with OI: both had bone deformities but only one had brain abnormalities and one had normal cognition
 * 7) the WNT1 homozygous frameshift mutation was examined which is located on the most 5' end of the chromosome