PMC9556235_01
Imaging findings of Patient 1. (A-C) Chest computed tomography showed consolidation with bronchiectasis in the right middle lobe and bronchial wall thickening and micronodules along the bronchioles in the lingula and bilateral lower lobes, with no situs inversus. (D, E) An endoscopic examination of the ears revealed eardrum calcification in the right ear and absence of the light reflex in the left ear. (F, G) Nasal endoscopy showed no obvious abnormalities. (H) Paranasal sinus CT showed an air-fluid level in the right maxillary sinus.
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Chest computed tomography (CT) showed consolidation with bronchiectasis in the right middle lobe and bronchial wall thickening and micronodules along the bronchioles in the lingula and bilateral lower lobes (Fig. 1A-C). An endoscopic examination of the ears revealed eardrum calcification in the right ear and absence of the light reflex in the left ear (Fig. 1D, E). Nasal endoscopy showed no obvious abnormalities (Fig. 1F, G). Paranasal sinus CT showed an air-fluid level in the right maxillary sinus (Fig. 1H).
PMC9556235_02
Imaging findings of Patient 2. (A-C) Chest computed tomography showed micronodules, bronchial wall thickening, partial patchy consolidation in the right middle lobe and bilateral lower lobes, and bronchiectasis in the peripheral area of the left lingula lobe, with no situs inversus. (D, E) An endoscopic examination of the ears showed the bilateral absence of the light reflex. (F, G) Nasal endoscopy showed no obvious abnormalities.
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These findings resembled those of her sister (Fig. 2A-C). An endoscopic examination of the ears revealed the absence of the light reflex in both eardrums (Fig. 2D, E). Nasal endoscopy showed no obvious abnormalities (Fig. 2F, G).
Family pedigree and the results of the genetic analysis. (A) Shaded circles indicate the two sisters with primary ciliary dyskinesia. The parents and grandparents had no respiratory illness. (B, C) Sanger sequencing showed that Patient 1 (III-1) and Patient 2 (III-2) had a homozygous variation of growth-arrest-specific 2-like 2 (GAS2L2) in both alleles. (D, E) Their father (II-1) and mother (II-5) had the same GAS2L2 variant in one allele, indicating autosomal recessive inheritance.
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The same variant was found in both alleles of the sisters and in one allele of both parents, supporting an autosomal recessive inheritance pattern (Fig. 3B-E).
PMC9556235_03
Family pedigree and the results of the genetic analysis. (A) Shaded circles indicate the two sisters with primary ciliary dyskinesia. The parents and grandparents had no respiratory illness. (B, C) Sanger sequencing showed that Patient 1 (III-1) and Patient 2 (III-2) had a homozygous variation of growth-arrest-specific 2-like 2 (GAS2L2) in both alleles. (D, E) Their father (II-1) and mother (II-5) had the same GAS2L2 variant in one allele, indicating autosomal recessive inheritance.
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The same variant was found in both alleles of the sisters and in one allele of both parents, supporting an autosomal recessive inheritance pattern (Fig. 3B-E).
Transmission electron microscopy of a cross-section revealed a random orientation (A). The central pair was surrounded by nine microtubule doublets, the outer dynein arms existed, while the inner dynein arms could not be seen clearly (B) in a biopsy sample from patient 2. The line through the central microtubular pair represent the direction of each cilium.
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Transmission electron microscopy (TEM) of the bronchus cilia from patient 2 revealed a random orientation (Fig. 4A). The central pair was surrounded by nine microtubule doublets, the outer dynein arms existed, while the inner dynein arms could not be seen clearly because the density of the inner dynein arms is low and difficult to visualize in a 70-100 nm TEM section (Fig. 4B).