Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

Springer Science and Business Media LLC - Tập 13 - Trang 1-5 - 2014
Yuka Yasuda1, Ryota Hashimoto1,2, Ryoko Fukai3,4, Nobuhiko Okamoto5, Yoko Hiraki6, Hidenaga Yamamori1,7, Michiko Fujimoto1, Kazutaka Ohi1, Masako Taniike2, Ikuko Mohri2, Mitsuko Nakashima4, Yoshinori Tsurusaki4, Hirotomo Saitsu4, Naomichi Matsumoto4, Noriko Miyake4, Masatoshi Takeda1
1Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan
2Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Suita, Japan
3Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Japan
4Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Japan
5Division of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan
6Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan
7Department of Molecular Neuropsychiatry, Osaka University Graduate School of Medicine, Suita, Japan

Tóm tắt

Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients. In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.

Tài liệu tham khảo

Veenstra-Vanderweele J, Christian SL, Cook EH: Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet. 2004, 5: 379-405. 10.1146/annurev.genom.5.061903.180050. Baio J: Prevalence of autism spectrum disorders–Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012, 61: 1-19. Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcin C, Montiel-Nava C, Patel V, Paula CS, Wang C, Yasamy MT, Fombonne E: Global prevalence of autism and other pervasive developmental disorders. Autism Res. 2012, 5: 160-179. 10.1002/aur.239. Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L: AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012, 40: D1016-D1022. 10.1093/nar/gkr1145. Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M: Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron. 2011, 70: 886-897. 10.1016/j.neuron.2011.05.015. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, et al: Multiple recurrent de novo CNVs, including duplications of the 7q1123 Williams syndrome region, are strongly associated with autism. Neuron. 2011, 70: 863-885. 10.1016/j.neuron.2011.05.002. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010, 466: 368-372. 10.1038/nature09146. Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet. 2011, 7: e1002334-10.1371/journal.pgen.1002334. Basu SN, Kollu R, Banerjee-Basu S: AutDB: a gene reference resource for autism research. Nucleic Acids Res. 2009, 37: D832-D836. 10.1093/nar/gkn835. Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C: Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000, 66: 778-789. 10.1086/302819. Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O’Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, et al: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011, 145: 513-528. 10.1016/j.cell.2011.04.019. Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S: High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007, 18: 1566-1575. 10.1681/ASN.2006101164. Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE: Identification of a novel polymorphism–the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006, 140A: 1876-1879. 10.1002/ajmg.a.31390. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, et al: An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011, 13: 777-784. 10.1097/GIM.0b013e31822c79f9. Doherty D: Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009, 16: 143-154. 10.1016/j.spen.2009.06.002. Yasuda Y, Hashimoto R, Yamamori H, Ohi K, Fukumoto M, Umeda-Yano S, Mohri I, Ito A, Taniike M, Takeda M: Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder. Mol Autism. 2011, 2: 9-10.1186/2040-2392-2-9. Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994, 24: 659-685. 10.1007/BF02172145. Yamada A, Suzuki M, Kato M, Tanaka S, Shindo T, Taketani K, Akechi T, Furukawa TA: Emotional distress and its correlates among parents of children with pervasive developmental disorders. Psychiatry Clin Neurosci. 2007, 61: 651-657. 10.1111/j.1440-1819.2007.01736.x. Wakabayashi A, Tojo Y, Baron-Cohen S, Wheelwright S: [The Autism-Spectrum Quotient (AQ) Japanese version: evidence from high-functioning clinical group and normal adults]. Shinrigaku Kenkyu. 2004, 75: 78-84. 10.4992/jjpsy.75.78. Wechsler D: Wechsler Adult Intelligence Scale - Third Edition, Manual. 1997, The Psychological Corporation, San Antonio Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG: Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene. 2014, 535: 70-78. 10.1016/j.gene.2013.10.020. Chakrabarti S, Fombonne E: Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005, 162: 1133-1141. 10.1176/appi.ajp.162.6.1133. Lugnegard T, Hallerback MU, Gillberg C: Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome. Res Dev Disabil. 2011, 32: 1910-1917. 10.1016/j.ridd.2011.03.025.
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