Another interesting finding in the current study is that 9 ATRX variants (4 germline and 5 somatic variants) were identified, representing the most common non-TSC1/2 variants in the 61 LAM patients, including one (ID135) of the 15 LAM patients without detectible TSC1/2 variants but with two somatic variants of ATRX, and a recurrent variant (ATRX/p.Arg907Gln) present in both patients ID087 and ID183 respectively. The gene discussed is TSC1; the disease is lymphangioleiomyomatosis.