Additional file 2 of Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Additional file 2. Table S1. Clinical features and detected mutated genes and variants of the 26 confirmed PCD patients of Chinese origin. a. The patients are listed according to different categories outlining the included patients. The first thirteen patients (patient 1, 2, 3, 4, 5, 6, 13, 18, 20, 22, 24, 25, 26) have KS (with or without ciliary ultrastructural defects), the next six patients (patient 8, 9, 10, 11, 12, 15) have ciliary ultrastructural defects without KS, and the last seven patients (patient 7, 14, 16, 17, 19, 21, 23) are patients with biallelic mutations alone (without KS or any ciliary ultrastructural defect). b. Most of the patients are too young that we did not know whether they have the infertility history or let them do the sperm test. c. If family members of a patient have a history of asthma or chronic bronchitis, the patient is determined to have a suspected PCD family history. d. For bronchiectasis, 1 means the patient has bronchiectasis in that certain location shown in CT scans, while 0 means no bronchiectasis is observed in that certain location. e. For pathogenicity prediction, SNVs in exonic regions are predicted by ACMG/AMP, indels are predicted using MutationTaster, variants in splicing regions are predicted using Human Splicing Finder. f. NA: not available, ND: not detected