Footnotes

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• Contributors SA performed data analysis and visualisation, and contributed to the manuscript draft; LF reviewed pathology and contributed to the draft; ND wrote the first draft; BR oversaw some of the experiments; CD carried out some of the Sanger sequencing; LdK prepared the samples and did some of the Sanger sequencing; NH oversaw some of the experiments; LG provided clinical data; PP oversaw data analysis; JR oversaw the whole-exome sequencing; WDF devised the project, oversaw the work and finalised the manuscript draft. All authors approved the submitted manuscript.

• Funding The work in WDF’s lab was funded by a Canadian Institutes of Health Research Foundation Grant (FDN-148390).

• Competing interests None declared.

• Provenance and peer review Not commissioned; externally peer reviewed.

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