Sequencing
Figure 1: Sequencing results for COH1 and ELANE genes in the patient and both parents. Sanger sequencing was performed using genomic DNA isolated from whole blood. The base-pair number of the mutation site was determined according to the GenBank mRNA reference sequence NM_001972.2 and NM_017890.4 for ELANE and COH1 , respectively. The electropherograms show the two heterozygous mutations (c.1495_1498delTTTG and c.1915C>T) in COH1 , and the heterozygous c.770C>T mutation in ELANE . Affected residuals are underlined or indicated by an arrow.