Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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
Affiliations

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

PubMed Disclaimer

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

References

    1. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al. American Thoracic Society Assembly on Pediatrics Diagnosis of primary ciliary dyskinesia: an official American Thoracic Society clinical practice guideline. Am J Respir Crit Care Med . 2018;197:e24–e39. - PMC - PubMed
    1. Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J . 2017;49:1601090. - PMC - PubMed
    1. Zariwala MA, Knowles MR, Leigh MW. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. Seattle, WA: University of Washington, Seattle; 2021. Primary ciliary dyskinesia. - PubMed
    1. Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, et al. SPEF2- and HYDIN-mutant cilia lack the central pair-associated protein SPEF2, aiding primary ciliary dyskinesia diagnostics. Am J Respir Cell Mol Biol . 2020;62:382–396. - PubMed
    1. Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, et al. UK10K Consortium Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet . 2012;91:672–684. - PMC - PubMed

Publication types