De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1765-1770

  Gregor, Anne ^a   Krumbiegel, Mandy ^a   Kraus, Cornelia ^a   Reis, André ^a   Zweier, Christiane ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Intellectual disability; MAPT; Mental retardation; Microdeletion 17q21.31

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 17Q; CHROMOSOME TRIPLICATION; GENE; GENE DOSAGE; GENE FUNCTION; GENE PROBE; GENETIC GAIN; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MAPT GENE; MICROSATELLITE MARKER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PATHOGENESIS; PRIORITY JOURNAL; STH GENE; STRUCTURAL CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ALLELES; CHROMOSOMES, HUMAN, PAIR 17; GENE DOSAGE; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; PEDIGREE; TAU PROTEINS;

EID: 84862682359     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35427     Document Type: Article

References (22)

1. Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M. 1999. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 8: 711- 715.
2. Bishop GA, King JS. 1999. Corticotropin releasing factor in the embryonic mouse cerebellum. Exp Neurol 160: 489- 499.
3. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43: 838- 846.
4. Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. 2011. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet 54: 144- 151.
5. Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. 2003. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 12: 849- 858.
6. Grisart B, Willatt L, Destree A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R. 2009. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. J Med Genet 46: 524- 530.
7. Harada A, Oguchi K, Okabe S, Kuno J, Terada S, Ohshima T, Sato-Yoshitake R, Takei Y, Noda T, Hirokawa N. 1994. Altered microtubule organization in small-calibre axons of mice lacking tau protein. Nature 369: 488- 491.
8. Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. 1998. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282: 1914- 1917.
9. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. 1998. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702- 705.
10. Ikegami S, Harada A, Hirokawa N. 2000. Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice. Neurosci Lett 279: 129- 132.
11. Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M. 2007. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 50: 256- 263.
12. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. 2008. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 45: 710- 720.
13. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38: 999- 1001.
14. Llado A, Rodriguez-Santiago B, Antonell A, Sanchez-Valle R, Molinuevo JL, Rene R, Perez-Jurado LA. 2007. MAPT gene duplications are not a cause of frontotemporal lobar degeneration. Neurosci Lett 424: 61- 65.
15. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. 2001. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29: 321- 325.
16. Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA. 2010. Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res 129: 275- 279.
17. Rovelet-Lecrux A, Hannequin D, Guillin O, Legallic S, Jurici S, Wallon D, Frebourg T, Campion D. 2010. Frontotemporal dementia phenotype associated with MAPT gene duplication. J Alzheimers Dis 21: 897- 902.
18. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38: 1038- 1042.
19. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38: 1032- 1037.
20. Skoglund L, Ingvast S, Matsui T, Freeman SH, Frosch MP, Brundin R, Giedraitis V, Growdon JH, Hyman BT, Lannfelt L, Ingelsson M, Glaser A. 2009. No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration. Dement Geriatr Cogn Disord 28: 471- 475.
21. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. 2005. A common inversion under selection in Europeans. Nat Genet 37: 129- 137.
22. Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G. 2009. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet 46: 480- 489.