Table 1.

A summary of human diseases caused by mutations in the RANK, RANKL and OPG genes

Gene	Mutation	Disease	Reference
RANK	18 bp duplication	Familial expansile osteolysis	[39]
	27 bp duplication	Early onset Paget’s disease	[39]
	15 bp duplication	Expansile skeletal hyperphosphatasia	[42]
RANKL	Deletion of amino acids 145-177	Autosomal recessive osteopetrosis	[43]
	A single nucleotide change (596T-A) in exon 8 of both alleles	Autosomal recessive osteopetrosis	[43]
	Deletion of two nucleotides (828_829delCG)	Autosomal recessive osteopetrosis	[43]
OPG	Deletion making OPG inactive	Juvenile Paget’s disease	[44]
	20 bp deletion resulting in premature termination of OPG translation	Juvenile Paget’s disease	[47]