EYA1 and Buschke-Ollendorff syndrome: In conclusion, a novel heterozygous de novo genomic deletion-insertion in EYA1, GRCh38/hg38:chr8:.71318554_71374171delinsTGCC, was very likely the pathogenic cause for the patient with BOS due to a decline in transactivation of EYA1 resulting from haploinsufficiency.