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. 2020 Nov 17;10:19986. doi: 10.1038/s41598-020-76725-8

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© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Genetic features of solved MFRP families. (a) Pedigree and haplotype analysis of F1 nanophthalmos family carrying MFRP variants (M1,M2). Boxes mark recombinant individuals. The minimal non-recombinant interval is bounded by exm2267281 and rs676943 and includes the MFRP gene. (b) Whole genome multi-point linkage analysis of F1 showing peaks on chr 6p and 11q with suggestive linkage. The chr11q peak contains the MFRP gene. (c) Sequencing chromatograms showing presence of both MFRP variants (c.498delC and c.1022T>C) in affected individuals, and only one variant in unaffected parents or children. (d) Pedigrees and variants identified in MFRP based on transcript NM_031433.4. Samples available for genotyping are included with their genotypes. (e) Protein diagram of MFRP showing location of all identified variants in this study. Frameshifts (triangle), splice altering (square), and missense (circle) variants are marked, with magenta being variants newly described in this study. (f) Homology modeling of missense variants in MFRP showing critical interactions of C285, L341, and G210. +, sampled individuals; arrow, proband.