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Article History

Received: 8 July 2020

Accepted: 11 February 2021

First Online: 25 February 2021

Ethics approval and consent to participate

: Family 1 were investigated on a clinical basis in the UK National Health Service (clinical examination and whole exome sequencing) and were subsequently enrolled in the ‘Splicing and Disease’ study for further functional investigation. This study was approved by South Central – Oxford B Research Ethics Committee (REC Reference 11/SC/0269, IRAS ID 49685). Family 2 were enrolled in a large genome sequencing study for undiagnosed disease. Ethical approval for Family 2’s study was granted by the Institutional Research Board of King Abdullah International Medical Research Center, Riyadh, Saudi Arabia (RC 16/113 and RC16/211/R2). Written informed consent to participate was obtained from the legal guardians for all subjects involved in this study as none had the capacity to consent for themselves. All research conformed with the principles of the Declaration of Helsinki. <i>Xenopus</i> experiments were conducted in accordance with the Home Office Code of Practice, under PPL 70/8983 with approval from the University of Portsmouth’s Animal Welfare and Ethical Review Body.

: Written informed consent for publication of identifiable data was obtained for Family 1 and 2 from the legal guardians of the participants. Consent included the publication of genetic sequence information and clinical information for both families and for clinical photographs for Family 1 only.

: The authors declare no competing interests.