Supplementary Table 2|Clinical overview of motile ciliopathy individuals in this study.

DOUGHERTY, Gerard W., et al. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Nature communications, 2020, 11. Jg., Nr. 1, S. 1-20..

Publication: https://doi.org/10.1038/s41467-020-19113-0

Description

Individuals with CFAP45or CFAP52mutations do not fulfill the diagnostic criteria for PCD,due to no indication of neonatal respiratory distress syndrome orchronic destructive lung disease (bronchiectasis) as well as nNO production rate levels generally above the currently accepted cutoff (77 nl / min.) for PCD referral cases1,2.All seven individuals presentLRA abnormalities includingsitus inversus totalis. CFAP45-deficient individual OP-28 II1 shows no evidence of bronchiectasis by chest CT scan(SupplementaryFig. 5p) but reported mild respiratory symptoms (rhinosinusitis and bronchitis)as well as recurrent effusions of the middle ear(otitis media). Asthenospermia is also indicated (see also Supplementary Videos 1 and 2and Fig.1). CFAP52-deficientindividual OI-81 II1 shows no evidence of bronchiectasis by chest CT scan(SupplementaryFig. 5q) butreported asthma-like respiratory symptoms and otitis media as well as infertility. Spirometry valuesfor OI-81 II1: FVc, 111%, FEV1, 109%, and FeF25-75, 88% with no significant reversibility. Bronchiectasis is almost universal by adulthood in PCD individuals1,2.Ta-Shma et al.3also reported normal nNO levels (578 ppb or 174 nl / min.), normal ciliary structure and no indication of bronchiectasis in unrelated siblings with loss-of-function CFAP52mutations.n.r. = not reported. See also SupplementaryFig. 1and Methods.

Disclaimer

The publication CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module by Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada & Heymut Omran is published under an open access license: http://creativecommons.org/licenses/by/4.0/. Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format.

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