References
Badano, J. L., & Katsanis, N. (2002). Beyond Mendel: An evolving view of human genetic disease transmission. Nature Reviews Genetics, 3(10), 779–789. https://doi.org/10.1038/nrg910
Bauer-Mehren, A., Bundschus, M., Rautschka, M., Mayer, M. A., Sanz, F., & Furlong, L. I. (2011). Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS ONE, 6(6), e20284. https://doi.org/10.1371/journal.pone.0020284
Bell, L., Wittkowski, A., & Hare, D. J. (2019). Movement disorders and syndromic autism: A systematic review. Journal of Autism and Developmental Disorders, 49(1), 54–67. https://doi.org/10.1007/s10803-018-3658-y
Bilder, D. A., Bakian, A. V., Stevenson, D. A., Carbone, P. S., Cunniff, C., Goodman, A. B., & Viskochil, D. (2016). Brief report: The prevalence of neurofibromatosis type 1 among children with autism spectrum disorder identified by the autism and developmental disabilities monitoring network. Journal of Autism and Developmental Disorders, 46(10), 3369–3376. https://doi.org/10.1007/s10803-016-2877-3
Brooks, A. S., Oostra, B. A., & Hofstra, R. M. W. (2005). Studying the genetics of Hirschsprung’s disease: Unraveling an oligogenic disorder. Clinical Genetics, 67(1), 6–14. https://doi.org/10.1111/j.1399-0004.2004.00319.x
Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., & Friend, S. H. (2016). Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology, 34(5), 531–538. https://doi.org/10.1038/nbt.3514
Cristino, A. S., Williams, S. M., Hawi, Z., An, J. Y., Bellgrove, M. A., Schwartz, C. E., & Claudianos, C. (2014). Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Molecular Psychiatry, 19(3), 294–301. https://doi.org/10.1038/mp.2013.16
Cutting, G. R. (2010). Modifier genes in Mendelian disorders: The example of cystic fibrosis. Annals of the New York Academy of Sciences, 1214, 57.
Friedman, T., Battey, J., Kachar, B., Riazuddin, S., Noben-Trauth, K., Griffith, A., & Wilcox, E. (2000). Modifier genes of hereditary hearing loss. Current Opinion in Neurobiology, 10(4), 487–493. https://doi.org/10.1016/S0959-4388(00)00120-3
Goh, K. I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A. L. (2007). The human disease network. Proceedings of the National Academy of Sciences, 104(21), 8685–8690. https://doi.org/10.1073/pnas.0701361104
Van Heyningen, V., & Yeyati, P. L. (2004). Mechanisms of non-Mendelian inheritance in genetic disease. Human molecular genetics, 13(suppl_2), R225-R233. https://doi.org/10.1093/hmg/ddh254
Jehee, F. S., de Oliveira, V. T., Gurgel-Giannetti, J., Pietra, R. X., Rubatino, F. V., Carobin, N. V., & Carvalho, C. M. (2017). Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. American Journal of Medical Genetics Part A, 173(9), 2451–2455. https://doi.org/10.1002/ajmg.a.38315
Kliegman, R. (2020). Nelson textbook of pediatrics (Edition 21.). Philadelphia, PA: Elsevier.
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., & Maglott, D. R. (2016). ClinVar: Public archive of interpretations of clinically relevant variants. Nucleic Acids Research, 44(D1), D862–D868. https://doi.org/10.1093/nar/gkv1222
Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., & MacArthur, D. G. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285–291. https://doi.org/10.1038/nature19057
Lupski, J. R., Belmont, J. W., Boerwinkle, E., & Gibbs, R. A. (2011). Clan genomics and the complex architecture of human disease. Cell, 147(1), 32–43. https://doi.org/10.1016/j.cell.2011.09.008
McKusick, V. A. (1998). Mendelian inheritance in man: a catalog of human genes and genetic disorders (Vol. 1). JHU Press.
Mottaz, A., David, F. P., Veuthey, A. L., & Yip, Y. L. (2010). Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinformatics, 26(6), 851–852. https://doi.org/10.1093/bioinformatics/btq028
Nagasaki, M., Yasuda, J., Katsuoka, F., Nariai, N., Kojima, K., Kawai, Y., & Yamamoto, M. (2015). Rare variant discovery by deep whole-genome sequencing of 1070 Japanese individuals. Nature Communications, 6(1), 1–13. https://doi.org/10.1038/ncomms9018
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., & Percy, A. K. (2010). RettSearch Consortium Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944–950. https://doi.org/10.1002/ana.22124
Nussbaum, R. L., McInnes, R. R., Willard, H. F., & Hamosh, A. (2007). Genetics of common disorders with complex inheritance. Thompson & Thompson genetics in medicine, 151–174.
Papadimitriou, S., Gazzo, A., Versbraegen, N., Nachtegael, C., Aerts, J., Moreau, Y., & Lenaerts, T. (2019). Predicting disease-causing variant combinations. Proceedings of the National Academy of Sciences, 116(24), 11878–11887. https://doi.org/10.1073/pnas.1815601116
Posey, J. E., Rosenfeld, J. A., James, R. A., Bainbridge, M., Niu, Z., Wang, X., & Plon, S. E. (2016). Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine, 18(7), 678–685. https://doi.org/10.1038/gim.2015.142
Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., & Lupski, J. R. (2017). Resolution of disease phenotypes resulting from multilocus genomic variation. New England Journal of Medicine, 376(1), 21–31. https://doi.org/10.1056/NEJMoa1516767
Robinson, P. N., Böddrich, A., Peters, H., Tinschert, S., Buske, A., Kaufmann, D., & Nürnberg, P. (1995). Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. Human Genetics, 96(1), 95–98. https://doi.org/10.1007/BF00214193
Robinson, J. F., & Kasanis, N. (2010). Oligogenic diseases//Vogel and Motulsky’s Human Genetics. Probems and Approaches. /Speicher MR, Antanarakis SE, Motulsky AG (eds.)–Berlin.
Schäffer, A. A. (2013). Digenic inheritance in medical genetics. Journal of Medical Genetics, 50(10), 641–652. https://doi.org/10.1136/jmedgenet-2013-101713
Scriver, C. R., & Waters, P. J. (1999). Monogenic traits are not simple: Lessons from phenylketonuria. Trends in Genetics, 15(7), 267–272. https://doi.org/10.1016/S0168-9525(99)01761-8
Sherry, S. T., Ward, M. H., Kholodov, M., Baker, J., Phan, L., Smigielski, E. M., & Sirotkin, K. (2001). dbSNP: The NCBI database of genetic variation. Nucleic Acids Research, 29(1), 308–311. https://doi.org/10.1093/nar/29.1.308
Stenson, P. D., Mort, M., Ball, E. V., Evans, K., Hayden, M., Heywood, S., & Cooper, D. N. (2017). The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics, 136(6), 665–677. https://doi.org/10.1007/s00439-017-1779-6
The 1000 Genomes Project Consortium, Auton, A., Brooks, L. D., Durbin, R. M., Garrison, E. P., Kang, H. M., Korbel, J. O., Marchini, J. L., McCarthy, S., McVean, G. A., & Abecasis, G. R. (2015). A global reference for human genetic variation. Nature, 526(7571), 68–74. https://doi.org/10.1038/nature15393
Vissers, L. E., Gilissen, C., & Veltman, J. A. (2016). Genetic studies in intellectual disability and related disorders. Nature Reviews Genetics, 17(1), 9–18. https://doi.org/10.1038/nrg3999
Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H. R., Amir, R. E., & Francke, U. (1999). Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. The American Journal of Human Genetics, 65(6), 1520–1529.
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., & Parkinson, H. (2014). The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 42(D1), D1001–D1006. https://doi.org/10.1093/nar/gkt1229
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., & Eng, C. M. (2013). Clinical whole-exome sequencing for the diagnosis of mendelian disorders. New England Journal of Medicine, 369(16), 1502–1511. https://doi.org/10.1056/NEJMoa1306555
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Material preparation, data collection and analysis were performed by UN, AJ and TK. UN, AJ, DP and FSA performed the developmental and psychological assessment and aided in interpreting the results. The first draft of the manuscript was written by TK with later review by UN, AJ and SFDP. All authors provided critical feedback and contributed to the final version of the manuscript.
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Narasimhan, U., Janakiraman, A., Puskur, D. et al. Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. J Autism Dev Disord 53, 2138–2142 (2023). https://doi.org/10.1007/s10803-022-05458-6
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DOI: https://doi.org/10.1007/s10803-022-05458-6