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. 2017 Sep 13;7:11466. doi: 10.1038/s41598-017-11523-3

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© The Author(s) 2017

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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A large bovine half-sib pedigree allows the mapping of modifier loci for CHARGE syndromes. (a–e) Presentation in CHD7 p.K594AfsX29/+ cattle of the different symptoms which gave rise to the CHARGE acronym in humans (C-coloboma (of the eyes), H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or central nervous system anomalies, G-genital and/or urinary anomalies, and E-ear anomalies and/or deafness). (a) iris coloboma highlighted by an arrowhead. (b) Heart showing tetralogy of Fallot; note the dextroposition of the aorta. (c) Renal cyst and its section. (d) Ears from an affected heifer showing abnormalities of the right pinna. Atresia choanae is not presented here but was demonstrated by the lack of revulsive reaction of certain animals after smelling alcohol. (e) Picture (at four years old) and scores (at 9 months old) of the mutant sire “Etsar” (MONFRAM002528725202) for 14 morphological traits expressed in percentiles with respect to distributions observed in 467 young Montbéliarde bulls raised by the same breeding company with the same protocol. Other symptoms are presented in Supplementary Note 2, Supplementary Figs 12 and 13 and Supplementary Tables 6–7). (f) Mapping on chromosome 24 of a locus influencing the clinical features of CHARGE syndrome (see Methods). The red line indicates the chromosome-wide empirical significance threshold of 0.05 as determined by 10 000 permutations of phenotype data (see Methods). Seven consecutive windows of ten markers from BTB-00883964 to ARS-BFGL-NGS-1731 (Chr24:29,132,144–29,762,125) had an empirical p-value of 0.03. Information on the gene content of the corresponding region is presented.