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Article History

Received: 6 July 2020

Accepted: 17 March 2021

First Online: 12 April 2021

Declarations

:

: Families 1, 7, and 8 were consented for the research in accordance with IRB-approved protocol (5369/12 S) of Technische Universitat Muenchen, Munich, Germany. Family 3 was sequenced in a clinical diagnostic laboratory (GeneDx), following informed consent; routine clinical analysis of ES data identified the reported variant. Although the proband is now deceased, the parents provided informed consent for the reporting of the detailed clinical and family history data and clinical ES findings. Families 2, 4, 5, and 6 were sequenced in the clinical Exeter NHS diagnostic lab, through which routine clinical analysis of ES data identified the reported variants. For each family, the parents signed an informed consent prior to sequencing and then subsequently provided informed consent for the reporting of detailed clinical and family history data, as well as the clinical ES findings. All research conformed to the principles of the Declaration of Helsinki.

: Written informed consent for publication of potentially identifiable information, including clinical data and <i>ATAD3A</i> variant data, was obtained from the legal guardians of all participants.

: J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics (BG) Laboratories. J.R.L. serves on the Scientific Advisory Board of BG. KGM is an employee of GeneDx, Inc. The remaining authors declare that they have no competing interests.