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. 2019 Feb 7;9:1597. doi: 10.1038/s41598-018-38178-y

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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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CHD7 mutations identified in patients with CHH. Arrows represent index cases, filled symbols represent affected individuals, open symbols represent unaffected individuals, squares denote men, circles denote women, oblique lines through symbols represent deceased individuals. Filled squares within squares represent individuals reported to have heart defects associated with polydactyly. Patients from families 3, 5 and 8 had mutations in additional genes, thus representing cases of oligogenicity. Genotypes for additional family members, when available, are presented beside each individual (+, wild-type allele; −, mutated allele; n/a, not available for genetic studies). The position of each heterozygous mutation on the DNA sequence is indicated by an asterisk.