Results of the Mutational Analyses in PIH1D3, Pedigrees of the PCD-Affected Families PCD-10 and OP-1899, and Clinical Features of OP-1899 II1
(A) Hemizygous loss-of-function mutations in PIH1D3 located on the X chromosome were identified in two families. Pedigree of PCD-affected families PCD-10 and OP-1899. PCD-affected siblings are shaded black and the unaffected sibling is shaded white.
(B) The chest X-ray radiograph as well as two computed tomography scans show situs inversus totalis, chronic airway disease with bronchiectasis in the middle lobe, and mucus plugging in OP-1899 II1.
(C) Exon-intron structure of PIH1D3. The exon-intron structure of PIH1D3 with untranslated (light gray) and translated (black) regions and the PIH1 domain (dark gray).