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. 2020 Jul 6;58(7):453–464. doi: 10.1136/jmedgenet-2019-106805

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Proband tissue bearing discs large 5 (DLG5) variant c.745C>T (p.Arg249Trp) displays tissue-specific deficits in ciliation. (A) Representative H&E stain of I 2–1 kidney showing cystic morphology. (B) Control 23 weeks and I 2–1 weeks fetal kidney tissue cross-section immunofluorescence labelling of cilia Arl13b or acetylated tubulin show a loss of cilia in DLG5 variant tissue. (C) Quantitation of cilia number in each cross-sectional kidney tubule analysed. (D) Control 23 weeks and I 2–1 weeks fetal lung airway tissue cross-section immunofluorescence labelling of cilia acetylated tubulin shows intact airway ciliation in DLG5 variant tissue. Bars indicate mean and SD of individual counts.