case_images: PMC11329306_01
case_images: Imaging findings in Case 1. (a) Chest X-ray at 2 months of age showing situs solitus and consolidation (black arrow) with a loss of lung volume in the right upper lobe. (b) Chest computed tomography showing consolidation (black arrow) with an air bronchogram in the right upper lobe. (c) Transmission electron microscopy findings of a biopsy specimen from the nasal mucosa of case 1 showing normal ciliary axoneme ultrastructure. The cilium consists of one pair of central microtubules (white arrow) surrounded by nine pairs of well-arranged peripheral microtubules. The outer dynein arms (arrowheads) are presented.
case_images: CRIG2024-1595717.001.jpg
case_images: PMC11329306_02_CRIG2024-1595717.001.jpg
case_images: fig1
case_images: Transmission electron microscopy of respiratory cilia from the nasal mucosa showed normal ciliary axoneme ultrastructure (Figure 1(c)).
case_images: PMC11329306_02
case_images: Imaging findings in Case 1. (a) Chest X-ray at 2 months of age showing situs solitus and consolidation (black arrow) with a loss of lung volume in the right upper lobe. (b) Chest computed tomography showing consolidation (black arrow) with an air bronchogram in the right upper lobe. (c) Transmission electron microscopy findings of a biopsy specimen from the nasal mucosa of case 1 showing normal ciliary axoneme ultrastructure. The cilium consists of one pair of central microtubules (white arrow) surrounded by nine pairs of well-arranged peripheral microtubules. The outer dynein arms (arrowheads) are presented.
case_images: CRIG2024-1595717.001.jpg
case_images: PMC11329306_02_CRIG2024-1595717.001.jpg
case_images: fig1
case_images: Transmission electron microscopy of respiratory cilia from the nasal mucosa showed normal ciliary axoneme ultrastructure (Figure 1(c)).
case_images: Family pedigree of case 1 with the results of Sanger sequencing. (a) Family pedigree of case 1. III-2 is the proband (Case 1) and his mother (II-3) is a carrier. III-3, -4, and -5 had symptoms similar to those of III-2, but genetic analysis has not been performed on these individuals. I-4 and II-5 are presumed to be carriers. (b) The proband (III-2) has a hemizygous variant in OFD1. (c) His father (II-2) does not carry the same variant. (d) The proband's mother (II-3) is a carrier of the same heterozygous deletion.
case_images: CRIG2024-1595717.002.jpg
case_images: PMC11329306_02_CRIG2024-1595717.002.jpg
case_images: fig2
case_images: However, three sons of his maternal aunt all had similar clinical symptoms as the proband (they have not undergone genetic testing) (Figure 2(a)). Sanger sequencing confirmed that his father did not carry this variant (Figure 2(c)), while this heterozygous deletion in OFD1 was found in the proband and his mother (Figures 2(b) and 2(d)).
case_images: PMC11329306_03
case_images: Imaging findings in Case 2. Ear endoscopy showing thickened bilateral tympanic membranes without a cone of light in the (a) right and (b) left ears. The middle nasal meatus is occluded with mucus secretion (white arrows) in the (c) right and (d) left nasal cavities. (e) Chest X-ray at 4 months of age showing situs inversus totalis and increased bronchovascular shadows (black arrow). Chest computed tomography of the (f) upper, (g) middle, and (h) lower lobes showing consolidation with ground glass opacity (black arrow) in the right lower lobe. (i) Transmission electron microscopy findings of Case 2. The cilium consists of one pair of central microtubules (white arrow) surrounded by nine pairs of well-arranged peripheral microtubules. The outer dynein arms (arrowheads) are presented.
case_images: CRIG2024-1595717.003.jpg
case_images: PMC11329306_03_CRIG2024-1595717.003.jpg
case_images: fig3
case_images: The bilateral tympanic membranes were thickened and the cone of light was absent (Figures 3(a) and 3(b)). The middle nasal meatus was occluded bilaterally on nasal endoscopy (Figures 3(c) and 3(d)). Chest X-ray at 4 months of age showed situs inversus and increased bronchovascular shadows (Figure 3(e)). Chest computed tomography at 1 year of age showed consolidation with some ground glass opacity in the right lower lobe (Figures 3(f), 3(g), and 3(h)). Transmission electron microscopy of respiratory cilia from the nasal mucosa showed the normal ciliary axoneme ultrastructure (Figure 3(i)).
case_images: Family pedigree of Case 2 with the results of Sanger sequencing. (a) Family pedigree of Case 2. III-2 is the proband. The parents are not carriers. (b) The proband (III-2) has a de novo deletion variant in OFD1. (c) Neither his father (II-1) nor (d) mother (II-2) carries the same variant.
case_images: CRIG2024-1595717.004.jpg
case_images: PMC11329306_03_CRIG2024-1595717.004.jpg
case_images: fig4
case_images: His parents and elder brother did not present with any symptoms of PCD or OFDSI (Figure 4(a)). Sanger sequencing confirmed that only the proband carried the variant (Figure 4(b)), while neither of his parents carried the same variant (Figures 4(c) and 4(d)).