Table 1:

Clinical Features of Increasing Tandem Duplication Length Within Exon 1 of TNFRSF11A Encoding RANK

Clinical Syndrome	PEBD	ESH	FEO	PDB2Jpn	PDB2Chn	PDB2Mex
Signal Peptide Elongation	12	15	18	27	27	27
Mutation	90dup12	84dup15	84dup18	75dup27	78dup27	77dup27
Number of known kindreds/cases	1/1	1/2	6/79	1/6	1/6	1/2
Deafness	Yes, congenital	Yes, childhood	Yes, variable timing	Mild in childhood to early 20s	Mild in teens to early 20s	Mild in adulthood
Tooth loss in childhood	Yes	Yes	Yes	No	No	No
Hand involvement	Yes	Yes	No	Yes	Yes	Yes
Skull involvement	Yes	Yes	No	Yes	Yes	Yes
Mandible/maxilla involvement	Yes	No	No	Yes	Yes	Yes
Pelvic involvement	Yes	Yes	No	Yes	Yes	Yes
Hypercalcemia	No	Yes	No	Yes*	Rare/Mild	Yes*

^*during immobilization

PEBD: panostotic expansile bone disease; ESH: expansile skeletal hyperphosphatasia; FEO: familial expansile osteolysis; PDB2: early-onset Paget’s disease of bone