In 2013, nine novel mutations in SNX10 were then described in 14 autosomal recessive osteopetrosis (ARO) patients, and together, SNX10 mutations are now known to accounting for about 4% of known ARO cases, roughly the same proportion as mutations in the RANK-RANKL pathway or in OSTM1 [10]. The gene discussed is SNX10; the disease is autosomal recessive osteopetrosis.