pr its ▁lie ▁on ▁the ▁ 7 q 3 3 - 3 4 ▁chrom os ome . ▁The ▁region ▁is ▁made ▁of ▁the ▁T B X AS 1 ▁gene , ▁which ▁is ▁associated ▁with ▁ble eding ▁disease , ▁B RA F , ▁which ▁is ▁associated ▁with ▁can cers , ▁and ▁ATP 6 V o A 4 , ▁which ▁is ▁associated ▁with ▁ren al ▁dist al ▁tub ular ▁ac idos is ▁with ▁sensor ine ural ▁hearing ▁loss . ▁One ▁year ▁later , ▁in ▁ 2 0 0 8 , ▁the ▁mut ation ▁in ▁the ▁T B X AS 1 ▁gene ▁was ▁found ▁to ▁be ▁the ▁gene ▁responsible ▁for ▁the ▁disease .   However , ▁this ▁means ▁that ▁since ▁T B X AS 1 ▁enc odes ▁for ▁the ▁en zym e ▁Th rom box ane - A ▁synth ase , ▁there ▁are ▁yet ▁to ▁be ▁known ▁functions ▁of ▁this ▁en zym e ▁when ▁it ▁comes ▁to ▁b one ▁rem old ing . ▁ ▁Sym pt oms ▁ ▁People ▁suffering ▁from ▁this ▁disease ▁often ▁have ▁varying ▁degrees ▁of ▁the ▁following ▁sympt oms . ▁ ▁People ▁with ▁the ▁disease ▁often ▁have ▁overall ▁infl amm ation ▁with ▁ske let al ▁sympt oms ▁that ▁could ▁include ▁increased ▁b one ▁density ▁associated ▁with ▁d ys pl asia . ▁Specifically , ▁the ▁extrem ities ▁are ▁especially ▁thick ▁and ▁long ; ▁b ones ▁can ▁be ▁seen ▁with ▁wide ▁dia phy se al ▁med ull ary ▁cav ities . ▁Most ▁early ▁manifest ations ▁of ▁this ▁disease ▁are ▁bow ing ▁of ▁the ▁legs ▁and