Supplementary Table 1|Genetic 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

A772-gene “ciliaproteome” NGS panel identifies compound heterozygous nonsense mutations (c.721C>T, p.Gln241*; c.907C>T, p.Arg303*) in cilia and flagella associated protein 45(CFAP45) in individual OP-28 II1(Fig. 1), following both copy number and single nucleotide variant analysis. WES identifies homozygous frameshift CFAP45mutationsinunrelatedindividualsOP-985 II1(Fig. 1) and TB-19 II1 (SupplementaryFig.1). WES also identifies mutations in cilia and flagella associated protein 52(CFAP52)in four unrelated individualsin the motile ciliopathy cohort(SupplementaryFig. 5). These mutations are either ultra-rare orabsent from the gnomAD or 1000 Genomes databases (indicated by n.a., not applicable) or present only in heterozygosity in few healthy controls. Respective minor allele frequency (MAF) for variants rs201144590, rs1360832162, and rs140921334 are 0.0001404, 0.000004, and 0.00003305. LOF indicates loss-of-function. CFAP52homozygous missense variant c.811G>A, pGly271Arg (rs140921334) is predicted to be deleterious or probably damaging by Provean and Polyphen webtool analysis, respectively; this variant is likely pathogenic (see Supplementary Fig. 8i). See also Methodsfor description of motile ciliopathy cohort, genetic analysis and prioritization of pathogenic variants.

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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Pie chart of selected column

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