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. 2020 Jan 28;10:1289. doi: 10.1038/s41598-019-57338-2

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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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Heterozygous copy number variation implicating MFRP found by whole genome sequencing. The affected patient in family 7 (F7) with MCOP and RP-like changes carries a partial MFRP deletion. (A) Left panel: IGV plot generated by whole genome sequencing, showing a heterozygous deletion of 6.2 kilobases (kb) and an insertion of 7 base pairs (bps) (GRCh37 [hg19] chr11:119, 217, 130_119, 223, 310delinsACCACTA, NM_031433.3 MFRP: c.−6087_54 +40 delinsTAGTGGT; p.?). Highlighted red read pairs have an unusually large insert size suggestive of a large deletion, and the read depth is reduced across the heterozygous deletion. The deletion spans exon 1 of MFRP probably abolishing transcription. Right panel: schematic representation of the deletion. (B) The deletion was confirmed by junction PCR and Sanger sequencing. The arrows in the schematic left panel represent the positions of the primers.