Batur et al, reported poorer pulmonary functions in individuals with PEX as compared to those without,18 while Taylor et al found an increased risk of chronic obstructive pulmonary disease (COPD) diagnosis in individuals with PEX.19 It was hypothesized that impaired elastogenesis associated with LOXL1 mutations in PEX may alter the repair processes in the lung, leading to pulmonary damage, especially after an insult such as cigarette smoking. The gene discussed is LOXL1; the disease is chronic obstructive pulmonary disease.