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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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Novel TMEM98 variant segregates with nanophthalmos in a 3-generation pedigree. (a) Three generation pedigree showing 4 affected individuals with nanophthalmos. (b) Sequencing chromatograms showing identified c.602G>C:p.(R201P) variant present in affected individuals, but not unaffected family members. (c) UCSC browser plot of 100 vertebrate conservation and MultiZ alignment of TMEM98 showing complete conservation of R201, as well as prior disease associated residues A193 and H196 down to lower vertebrate animals such as zebrafish. (d) Protein diagram of TMEM98 showing location of our identified variant p.(R201P) (magenta), and previously identified disease associated variants (green). (e) Homology modeling of TMEM98 based on Cyclin-D1-binding protein 1 crystal structure (3ay5.1). + , sampled individuals, arrow, proband.