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. 2019 Nov 1;9:15864. doi: 10.1038/s41598-019-52436-7

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© The Author(s) 2019

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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Segregation analysis and functional characterization of the DNAH6 mutation. (a) Sequence chromatograms for DNAH6 (c.6582 C > A and c.11258 G > A) in family 1, and DNAH6 (c.10025 G > A and c.2823dupT) in family 2. Both unaffected parents were heterozygous, whereas the patients (P1, P2, and P3) were compound heterozygous for these mutations and the unaffected sister harbored the wild-type variant. (b) Structure of DNAH6 protein; predicted functional domains are shown together with the position of novel mutations identified in MMAF patients. (c) Cross-species alignment showing strong conservation at positions 2194 and 3753 in DNAH6.