{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:15:58Z","timestamp":1740122158802,"version":"3.37.3"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T00:00:00Z","timestamp":1644019200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T00:00:00Z","timestamp":1644019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Autism Dev Disord"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1007\/s10803-022-05458-6","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T04:28:33Z","timestamp":1644035313000},"page":"2138-2142","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination"],"prefix":"10.1007","volume":"53","author":[{"given":"Udayakumar","family":"Narasimhan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhinayaa","family":"Janakiraman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dedeepya","family":"Puskur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatima Shirly","family":"Anitha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solomon Franklin Durairaj","family":"Paul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5193-1436","authenticated-orcid":false,"given":"Teena","family":"Koshy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,2,5]]},"reference":[{"issue":"10","key":"5458_CR1","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/nrg910","volume":"3","author":"JL Badano","year":"2002","unstructured":"Badano, J. L., & Katsanis, N. (2002). Beyond Mendel: An evolving view of human genetic disease transmission. Nature Reviews Genetics, 3(10), 779\u2013789. https:\/\/doi.org\/10.1038\/nrg910","journal-title":"Nature Reviews Genetics"},{"issue":"6","key":"5458_CR2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020284","volume":"6","author":"A Bauer-Mehren","year":"2011","unstructured":"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","journal-title":"PLoS ONE"},{"issue":"1","key":"5458_CR3","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1007\/s10803-018-3658-y","volume":"49","author":"L Bell","year":"2019","unstructured":"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\u201367. https:\/\/doi.org\/10.1007\/s10803-018-3658-y","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"10","key":"5458_CR4","doi-asserted-by":"publisher","first-page":"3369","DOI":"10.1007\/s10803-016-2877-3","volume":"46","author":"DA Bilder","year":"2016","unstructured":"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\u20133376. https:\/\/doi.org\/10.1007\/s10803-016-2877-3","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"1","key":"5458_CR5","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1111\/j.1399-0004.2004.00319.x","volume":"67","author":"AS Brooks","year":"2005","unstructured":"Brooks, A. S., Oostra, B. A., & Hofstra, R. M. W. (2005). Studying the genetics of Hirschsprung\u2019s disease: Unraveling an oligogenic disorder. Clinical Genetics, 67(1), 6\u201314. https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00319.x","journal-title":"Clinical Genetics"},{"issue":"5","key":"5458_CR6","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1038\/nbt.3514","volume":"34","author":"R Chen","year":"2016","unstructured":"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\u2013538. https:\/\/doi.org\/10.1038\/nbt.3514","journal-title":"Nature Biotechnology"},{"issue":"3","key":"5458_CR7","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1038\/mp.2013.16","volume":"19","author":"AS Cristino","year":"2014","unstructured":"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\u2013301. https:\/\/doi.org\/10.1038\/mp.2013.16","journal-title":"Molecular Psychiatry"},{"key":"5458_CR8","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1111\/j.1749-6632.2010.05879.x","volume":"1214","author":"GR Cutting","year":"2010","unstructured":"Cutting, G. R. (2010). Modifier genes in Mendelian disorders: The example of cystic fibrosis. Annals of the New York Academy of Sciences, 1214, 57.","journal-title":"Annals of the New York Academy of Sciences"},{"issue":"4","key":"5458_CR9","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/S0959-4388(00)00120-3","volume":"10","author":"T Friedman","year":"2000","unstructured":"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\u2013493. https:\/\/doi.org\/10.1016\/S0959-4388(00)00120-3","journal-title":"Current Opinion in Neurobiology"},{"issue":"21","key":"5458_CR10","doi-asserted-by":"publisher","first-page":"8685","DOI":"10.1073\/pnas.0701361104","volume":"104","author":"KI Goh","year":"2007","unstructured":"Goh, K. I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barab\u00e1si, A. L. (2007). The human disease network. Proceedings of the National Academy of Sciences, 104(21), 8685\u20138690. https:\/\/doi.org\/10.1073\/pnas.0701361104","journal-title":"Proceedings of the National Academy of Sciences"},{"key":"5458_CR11","doi-asserted-by":"publisher","unstructured":"Van Heyningen, V., & Yeyati, P. L. (2004). Mechanisms of non-Mendelian inheritance in genetic disease.\u00a0Human molecular genetics,\u00a013(suppl_2), R225-R233. https:\/\/doi.org\/10.1093\/hmg\/ddh254","DOI":"10.1093\/hmg\/ddh254"},{"issue":"9","key":"5458_CR12","doi-asserted-by":"publisher","first-page":"2451","DOI":"10.1002\/ajmg.a.38315","volume":"173","author":"FS Jehee","year":"2017","unstructured":"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\u20132455. https:\/\/doi.org\/10.1002\/ajmg.a.38315","journal-title":"American Journal of Medical Genetics Part A"},{"key":"5458_CR13","unstructured":"Kliegman, R. (2020). Nelson textbook of pediatrics (Edition 21.). Philadelphia, PA: Elsevier."},{"issue":"D1","key":"5458_CR14","doi-asserted-by":"publisher","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","volume":"44","author":"MJ Landrum","year":"2016","unstructured":"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\u2013D868. https:\/\/doi.org\/10.1093\/nar\/gkv1222","journal-title":"Nucleic Acids Research"},{"issue":"7616","key":"5458_CR15","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"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\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"issue":"1","key":"5458_CR16","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.cell.2011.09.008","volume":"147","author":"JR Lupski","year":"2011","unstructured":"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\u201343. https:\/\/doi.org\/10.1016\/j.cell.2011.09.008","journal-title":"Cell"},{"key":"5458_CR17","doi-asserted-by":"crossref","unstructured":"McKusick, V. A. (1998).\u00a0Mendelian inheritance in man: a catalog of human genes and genetic disorders\u00a0(Vol. 1). JHU Press.","DOI":"10.56021\/9780801857423"},{"issue":"6","key":"5458_CR18","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1093\/bioinformatics\/btq028","volume":"26","author":"A Mottaz","year":"2010","unstructured":"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\u2013852. https:\/\/doi.org\/10.1093\/bioinformatics\/btq028","journal-title":"Bioinformatics"},{"issue":"1","key":"5458_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ncomms9018","volume":"6","author":"M Nagasaki","year":"2015","unstructured":"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\u201313. https:\/\/doi.org\/10.1038\/ncomms9018","journal-title":"Nature Communications"},{"issue":"6","key":"5458_CR20","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"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\u2013950. https:\/\/doi.org\/10.1002\/ana.22124","journal-title":"Annals of Neurology"},{"key":"5458_CR21","doi-asserted-by":"crossref","unstructured":"Nussbaum, R. L., McInnes, R. R., Willard, H. F., & Hamosh, A. (2007). Genetics of common disorders with complex inheritance.\u00a0Thompson & Thompson genetics in medicine, 151\u2013174.","DOI":"10.1016\/B978-1-4160-3080-5.50010-9"},{"issue":"24","key":"5458_CR22","doi-asserted-by":"publisher","first-page":"11878","DOI":"10.1073\/pnas.1815601116","volume":"116","author":"S Papadimitriou","year":"2019","unstructured":"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\u201311887. https:\/\/doi.org\/10.1073\/pnas.1815601116","journal-title":"Proceedings of the National Academy of Sciences"},{"issue":"7","key":"5458_CR23","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1038\/gim.2015.142","volume":"18","author":"JE Posey","year":"2016","unstructured":"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\u2013685. https:\/\/doi.org\/10.1038\/gim.2015.142","journal-title":"Genetics in Medicine"},{"issue":"1","key":"5458_CR24","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1056\/NEJMoa1516767","volume":"376","author":"JE Posey","year":"2017","unstructured":"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\u201331. https:\/\/doi.org\/10.1056\/NEJMoa1516767","journal-title":"New England Journal of Medicine"},{"issue":"1","key":"5458_CR25","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1007\/BF00214193","volume":"96","author":"PN Robinson","year":"1995","unstructured":"Robinson, P. N., B\u00f6ddrich, A., Peters, H., Tinschert, S., Buske, A., Kaufmann, D., & N\u00fcrnberg, 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\u201398. https:\/\/doi.org\/10.1007\/BF00214193","journal-title":"Human Genetics"},{"key":"5458_CR26","unstructured":"Robinson, J. F., & Kasanis, N. (2010). Oligogenic diseases\/\/Vogel and Motulsky\u2019s Human Genetics. Probems and Approaches. \/Speicher MR, Antanarakis SE, Motulsky AG (eds.)\u2013Berlin."},{"issue":"10","key":"5458_CR27","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1136\/jmedgenet-2013-101713","volume":"50","author":"AA Sch\u00e4ffer","year":"2013","unstructured":"Sch\u00e4ffer, A. A. (2013). Digenic inheritance in medical genetics. Journal of Medical Genetics, 50(10), 641\u2013652. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101713","journal-title":"Journal of Medical Genetics"},{"issue":"7","key":"5458_CR28","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S0168-9525(99)01761-8","volume":"15","author":"CR Scriver","year":"1999","unstructured":"Scriver, C. R., & Waters, P. J. (1999). Monogenic traits are not simple: Lessons from phenylketonuria. Trends in Genetics, 15(7), 267\u2013272. https:\/\/doi.org\/10.1016\/S0168-9525(99)01761-8","journal-title":"Trends in Genetics"},{"issue":"1","key":"5458_CR29","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"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\u2013311. https:\/\/doi.org\/10.1093\/nar\/29.1.308","journal-title":"Nucleic Acids Research"},{"issue":"6","key":"5458_CR30","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","volume":"136","author":"PD Stenson","year":"2017","unstructured":"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\u2013677. https:\/\/doi.org\/10.1007\/s00439-017-1779-6","journal-title":"Human Genetics"},{"issue":"7571","key":"5458_CR35","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"A Auton","year":"2015","unstructured":"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\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"issue":"1","key":"5458_CR31","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/nrg3999","volume":"17","author":"LE Vissers","year":"2016","unstructured":"Vissers, L. E., Gilissen, C., & Veltman, J. A. (2016). Genetic studies in intellectual disability and related disorders. Nature Reviews Genetics, 17(1), 9\u201318. https:\/\/doi.org\/10.1038\/nrg3999","journal-title":"Nature Reviews Genetics"},{"issue":"6","key":"5458_CR32","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1086\/302690","volume":"65","author":"M Wan","year":"1999","unstructured":"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\u20131529.","journal-title":"The American Journal of Human Genetics"},{"issue":"D1","key":"5458_CR33","doi-asserted-by":"publisher","first-page":"D1001","DOI":"10.1093\/nar\/gkt1229","volume":"42","author":"D Welter","year":"2014","unstructured":"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\u2013D1006. https:\/\/doi.org\/10.1093\/nar\/gkt1229","journal-title":"Nucleic Acids Research"},{"issue":"16","key":"5458_CR34","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"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\u20131511. https:\/\/doi.org\/10.1056\/NEJMoa1306555","journal-title":"New England Journal of Medicine"}],"container-title":["Journal of Autism and Developmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10803-022-05458-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10803-022-05458-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10803-022-05458-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T02:03:44Z","timestamp":1682301824000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10803-022-05458-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,5]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["5458"],"URL":"https:\/\/doi.org\/10.1007\/s10803-022-05458-6","relation":{},"ISSN":["0162-3257","1573-3432"],"issn-type":[{"type":"print","value":"0162-3257"},{"type":"electronic","value":"1573-3432"}],"subject":[],"published":{"date-parts":[[2022,2,5]]},"assertion":[{"value":"20 January 2022","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2022","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicts of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The parents have given their written informed consent to publish their case excluding publication of images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}