case_images: PMC10850321_01
case_images: (A) Cross section of respiratory cilia. No structural abnormalities were observed by TEM; normal 9 + 2 configuration of microtubules and the presence of outer and inner arms are shown. (B) Reduced ciliary epithelium and shorter cilia are described.
case_images: fped-12-1339664-g001.jpg
case_images: PMC10850321_01_fped-12-1339664-g001.jpg
case_images: F1
case_images: Our patients did not reveal ciliary ultrastructure abnormalities, with no changes of class 1 (Hallmark diagnostic defects) and class 2 defects for the ultrastructural diagnosis (Figure 1A). Reduced ciliary epithelium, more aciliary respiratory epithelium, and shorter cilia were described (Figure 1B).
case_images: Electropherograms showing detected mutation NM_001034853: c.309_310insA, p.Glu104Argfs*12 in the RPGR gene in (A, B) a hemizygous state in our patients, (C) in a heterozygous state in their mother, and (D) the wild-type allele in their father.
case_images: fped-12-1339664-g002.jpg
case_images: PMC10850321_01_fped-12-1339664-g002.jpg
case_images: F2
case_images: The detected variant was confirmed by Sanger sequencing in the older patient (P1) as well as in his younger brother (P2) (Figures 2A, B). The segregation analysis confirmed the maternal origin of the mutation (Figure 2C). As expected, the father has a wild-type genotype (Figure 2D).
case_images: Pedigree diagram of the family showing disease segregation. The arrows indicate the patients (P1 and P2) described in this case report. The pedigree chart was created in the program QuickPed.
case_images: fped-12-1339664-g003.jpg
case_images: PMC10850321_01_fped-12-1339664-g003.jpg
case_images: F3
case_images: The six-generation pedigree chart is shown in Figure 3.