From: Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
Mutations in OI and Brucks syndrome patients | Type | Position | OI severity | Reference |
---|---|---|---|---|
c.117_152del (p.Leu41GlnfsX22) homozygous | frame shift deletion | upstream of 1st PPIase domain | Fractures beginning at age 3 years | [13] |
c.321_353del (p.Gly107-Leu117del) homozygous | in frame deletion | 1st PPIase domain | Fractures beginning in infancy | [11] |
c.321_353del (p.Met107-Leu117del*)/c.1276-_1277insC (p.Glu426ProfsX479) heterozygous | in frame deletion/frame shift insertion | 1st PPIase domain/HEEL domain | nm | [13] |
c.344G>A, (p.Arg115Gln)/c.831dupC (p.Gly278ArgfsX295) heterozygous | frame shift insertion/missense mutation | 1st PPIase domain/ | Fractures beginning in infancy (fist weeks of life) | [13] |
c.831dupC* (p.Gly278ArgfsX295) homozygous | frame shift duplication | between 2nd and 3rd PPIase domain | Fractures beginning in infancy (2 months of age) | [11] [13] |
c.1016_1023dup (p.Thr342GlyfsX26) | frame shift duplication | 3rd PPIase domain | Fractures beginning in infancy (7 months of age) | [14] |
c.1207C>T (R403X) homozygous | nonsense mutation | HEEL domain | Multiple fractures in fetal period | Family presented here |