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. 2020 May 1;11(5):303. doi: 10.1038/s41419-020-2494-0

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — a Pedigree of the study family showing the segregation of rare, small nucleotide deletions in FA2H and MLKL. Circles represent women, squares men, the solid symbol represent the clinically affected index patients (brother II-2 and brother II-3, who is the proband), open symbols represent unaffected family members, and dotted symbols indicate heterozygous individuals. A slash through a symbol represents a deceased person; in this family this is the father of the patients, I-1, who passed away in 2015 at the age of 95 years. b FA2H NM_024306.4:c.32_34del variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold are the three nucleotides and corresponding amino acid that are deleted. c MLKL rs561839347 variant genotype of the study family members as determined by Sanger sequencing. Sequences in bold represent the four nucleotides that are deleted. Italicized amino acids are novel residues in the predicted protein due to the frameshift.