PMC9298917_01
Pedigree and clinical features of the patient. (A) The pedigree indicated that the patient was from a non-consanguineous family, and other family members were asymptomatic. The arrow indicates the proband. (B) High resolution computed tomography of sinuses exhibited sinusitis (arrows). (C) Chest high-resolution computed tomography showed bronchiectasis in both lungs (arrows). (D) The ciliary beating frequencies showed no statistically significant difference between normal control and patient. (E) Papanicolaou staining revealed the abnormal morphology of sperm flagella compared with the healthy control.
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F1
The proband is a 19-year-old unmarried Chinese male with non-consanguineous parents and a healthy sister (Figure 1A). High resolution computed tomography revealed chronic sinusitis (Figure 1B), and bronchiectasis of both lungs (Figure 1C). HSVA of nasal brush biopsies showed that a normal ciliary beating frequency and a reduced amplitude in ciliary beating pattern (Figure 1D and Supplementary Video S1) compared with normal control (Supplementary Video S2). Subsequent Papanicolaou staining also confirmed that the flagella morphologies of the patient were abnormal, which met the diagnostic criteria of MMAF (Table 1; Figure 1E).