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. 2023 Jan;20(1):140-144.
doi: 10.1513/AnnalsATS.202203-253RL.

HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians

Adam J Shapiro  1 , Guillaume Sillon  1 , Daniela D'Agostino  1 , Laurence Baret  1 , Francesc López-Giráldez  2 , Shrikant Mane  2 , Margaret W Leigh  3 , Stephanie D Davis  3 , Michael R Knowles  3 , Maimoona A Zariwala  3
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HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians

Adam J Shapiro et al. Ann Am Thorac Soc. 2023 Jan.
No abstract available

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Figures

Figure 1.
Figure 1.
Transmission electron microscopy in a participant with HYDIN-related disease. Ciliary cross-sections from participant M101 (HYDIN c.10426C>T, p.[Arg3476*], homozygous) showing normal ultrastructure with 9 + 2 arrangement of the outer microtubule doublets and central apparatus plus visible outer and inner dynein arms; 80,000× magnification. Nondiagnostic electron microscopy changes may be seen in HYDIN-associated cases, including shrunken central pairs and occasional translocations of peripheral doublets to the central pair area (not pictured here). Suggestion of an absent C2b projection from the central apparatus can also be identified (surrounding white spaces and clearly visible radial spoke heads, black arrow). Definitive absence of the C2b projection requires advanced imaging techniques, including image averaging microscopy and computed tomography of affected cilia (5). HYDIN = HYDIN axonemal central pair apparatus protein.
See this image and copyright information in PMC

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References

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