Effectiveness of sequencing selected exons of <i>DNAH5 and DNAI1</i> in diagnosis of primary ciliary dyskinesia

Abstract

Selected exon sequencing detects at least one mutated allele in over a half of our patients who have PCD due to DNAH5 or DNAI1 mutations. To lower the costs of the genetic testing, targeted step-wise genetic testing may be a reasonable approach to detect mutations in PCD patients, especially if their phenotype is taken into account.