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. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317

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Copyright © 2021 Ascari, Rendtorff, De Bruyne, De Zaeytijd, Van Lint, Bauwens, Van Heetvelde, Arno, Jacob, Creytens, Van Dorpe, Van Laethem, Rosseel, De Pooter, De Rijk, De Coster, Menten, Rey, Strazisar, Bertelsen, Tranebjaerg and De Baere.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigrees segregating the CEP78 structural and sequence variants and haplotype reconstruction for the shared SV. (A) F1, II:1 is homozygous for a complex deletion–inversion–deletion involving exons 1–5 of CEP78. F2, II:1 is compound heterozygous for a deletion of 235 kb overlapping CEP78 and PSAT1 and for splice site variant c.1209-2A>C. F3, II:1 is compound heterozygous for the same deletion–inversion–deletion of F1, II:1 and the c.1449dup variant in CEP78. F4, II:1 is homozygous for splice site variant c.1208+2T>A. Extended F4 pedigree available in Supplementary Clinical Data 2. (B) Genotyping of 18 flanking single-nucleotide polymorphisms (SNPs) revealed a common haplotype of 1.9 Mb, between the individuals carrying the deletion–inversion–deletion [F1, F3 and the case originally described by Sanchis-Juan et al. (2018)]. Extended version available in Supplementary Table 5. Abbreviations: Del, deletion (or deletion–inversion–deletion); wt, wild type.