To confirm the diagnosis of BOS we obtained informed consent from the patient, isolated DNA from peripheral blood leucocytes and analysed the entire coding sequence of LEMD3 with next generation sequencing (NGS) using the Agilent SureSelect XT Clinical Research Exome Kit (V5) on a HiSeq 2500 System (Illumina Inc.). Here, LEMD3 is linked to Buschke-Ollendorff syndrome.