Skip to main content

Table 1 Summary of known FKBP10 mutations

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

  1. Predicted amino acid mutations are given in brackets; *mutation nomenclature has been adapted to match the entries in the Osteogenesis Imperfecta Variant Database (https://oi.gene.le.ac.uk);