Skip to main content
. 2021 Mar 10;36(6):1088–1103. doi: 10.1002/jbmr.4275

Fig 4.

Fig 4

Mutation in the PFN1 gene underlies familial and sporadic Paget's disease of bone/giant cell tumor of bone (PDB/GCT). (A) Genetic linkage analysis achieved a maximal LOD score of 2.70 for chromosomes 17:8, 547–5, 657, 423 (GRCh37). (B) The DNA sequence of PFN1 in familial and sporadic PDB/GCT. Electropherogram shows heterozygous frameshift deletion in PFN1 c.318_321delTGAC in family 1 and c.324_324delG in sporadic PDB/GCT, heterozygous missense mutation c.335 T > C in family 2. (C) Evolutionary conservation of the mutation sites among different species. Arrows and highlights mark the mutated residues. (D) Mutational analysis of the c.335 T > C mutation in PFN1, showing the mutation predicted to be deleterious by PolyPhen‐2, Provean, and MutationTaster.