Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

American Journal of Human Genetics

Volumn 85, Issue 6, 2009, Pages 809-822

  Vandewalle, Joke ^a,b   Van Esch, Hilde ^c   Govaerts, Karen ^a,b   Verbeeck, Jelle ^a,b   Zweier, Christiane ^d   Madrigal, Irene ^e   Mila, Montserrat ^e   Pijkels, Elly ^c   Fernandez, Isabel ^f   Kohlhase, Jürgen ^g   Spaich, Christiane ^h   Rauch, Anita ^d   Fryns, Jean Pierre ^c   Marynen, Peter ^a,b   Froyen, Guy ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^e INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^f UNIVERSITY OF VALLADOLID   (Spain)

^g UNIVERSITY OF FREIBURG   (Germany)

^h Institute for Clinical Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; MESSENGER RNA; NY ESO 1 ANTIGEN;

ARTICLE; ATP6AP1 GENE; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; DNA RECOMBINATION; DNASE1L1 GENE; EMD GENE; FAM50A GENE; FLNA GENE; GDI1 GENE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE NUMBER; HUMAN; LAGE3 GENE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PLXNA3 GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RPL10 GENE; SLC10A3 GENE; TAZ GENE; UBL4A GENE;

ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FEMALE; GENE DOSAGE; HUMANS; MALE; MENTAL RETARDATION; MODELS, GENETIC; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PHENOTYPE; RECOMBINATION, GENETIC;

EID: 71449109112     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.019     Document Type: Article

References (35)

1. Froyen G., Van Esch H., Bauters M., Hollanders K., Frints S.G., Vermeesch J.R., Devriendt K., Fryns J.P., and Marynen P. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes. Hum. Mutat. 28 (2007) 1034-1042
2. Froyen G., Corbett M., Vandewalle J., Jarvela I., Lawrence O., Meldrum C., Bauters M., Govaerts K., Vandeleur L., Van Esch H., et al. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am. J. Hum. Genet. 82 (2008) 432-443
3. Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gecz J., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77 (2005) 442-453
4. Bauters M., Van Esch H., Friez M.J., Boespflug-Tanguy O., Zenker M., Vianna-Morgante A.M., Rosenberg C., Ignatius J., Raynaud M., Hollanders K., et al. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 18 (2008) 847-858
5. Lee J.A., Carvalho C.M., and Lupski J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131 (2007) 1235-1247
6. Carvalho C.M., Zhang F., Liu P., Patel A., Sahoo T., Bacino C.A., Shaw C., Peacock S., Pursley A., Tavyev Y.J., et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum. Mol. Genet. 18 (2009) 2188-2203
7. del Gaudio D., Fang P., Scaglia F., Ward P.A., Craigen W.J., Glaze D.G., Neul J.L., Patel A., Lee J.A., Irons M., et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 8 (2006) 784-792
8. Wolf N.I., Sistermans E.A., Cundall M., Hobson G.M., Davis-Williams A.P., Palmer R., Stubbs P., Davies S., Endziniene M., Wu Y., et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 128 (2005) 743-751
9. Shaw C.J., and Lupski J.R. Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum. Mol. Genet. 13 (2004) R57-R64 Spec No 1
10. Ballabio A., Bardoni B., Carrozzo R., Andria G., Bick D., Campbell L., Hamel B., Ferguson-Smith M.A., Gimelli G., Fraccaro M., et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. Natl. Acad. Sci. USA 86 (1989) 10001-10005
11. Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., Israel A., Heiss N.S., Klauck S.M., Kioschis P., et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405 (2000) 466-472
12. Bauters M., Van Esch H., Marynen P., and Froyen G. X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur. J. Med. Genet. 48 (2005) 263-275
13. Madrigal I., Rodriguez-Revenga L., Armengol L., Gonzalez E., Rodriguez B., Badenas C., Sanchez A., Martinez F., Guitart M., Fernandez I., et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics 8 (2007) 443
14. Unger S., Bohm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Bohm J., Barrionuevo F., Craig A., et al. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat. Genet. 40 (2008) 287-289
15. Barrett M.T., Scheffer A., Ben-Dor A., Sampas N., Lipson D., Kincaid R., Tsang P., Curry B., Baird K., Meltzer P.S., et al. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc. Natl. Acad. Sci. USA 101 (2004) 17765-17770
16. Willenbrock H., and Fridlyand J. A comparison study: Applying segmentation to array CGH data for downstream analyses. Bioinformatics 21 (2005) 4084-4091
17. Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., and Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51 (1992) 1229-1239
18. Jehee F.S., Rosenberg C., Krepischi-Santos A.C., Kok F., Knijnenburg J., Froyen G., Vianna-Morgante A.M., Opitz J.M., and Passos-Bueno M.R. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am. J. Med. Genet. A. 139 (2005) 221-226
19. Ramocki M.B., and Zoghbi H.Y. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 455 (2008) 912-918
20. DerMardirossian C., and Bokoch G.M. GDIs: Central regulatory molecules in Rho GTPase activation. Trends Cell Biol. 15 (2005) 356-363
21. D'Adamo P., Menegon A., Lo N.C., Grasso M., Gulisano M., Tamanini F., Bienvenu T., Gedeon A.K., Oostra B., Wu S.K., et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat. Genet. 19 (1998) 134-139
22. Robertson S.P. Filamin A: Phenotypic diversity. Curr. Opin. Genet. Dev. 15 (2005) 301-307
23. Clayton-Smith J., Walters S., Hobson E., Burkitt-Wright E., Smith R., Toutain A., Amiel J., Lyonnet S., Mansour S., Fitzpatrick D., et al. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur. J. Hum. Genet. 17 (2008) 434-443
24. Perry G.H., Ben-Dor A., Tsalenko A., Sampas N., Rodriguez-Revenga L., Tran C.W., Scheffer A., Steinfeld I., Tsang P., Yamada N.A., et al. The fine-scale and complex architecture of human copy-number variation. Am. J. Hum. Genet. 82 (2008) 685-695
25. Klauck S.M., Felder B., Kolb-Kokocinski A., Schuster C., Chiocchetti A., Schupp I., Wellenreuther R., Schmotzer G., Poustka F., Breitenbach-Koller L., et al. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol. Psychiatry 11 (2006) 1073-1084
26. Ross O.A., Braithwaite A.T., Skipper L.M., Kachergus J., Hulihan M.M., Middleton F.A., Nishioka K., Fuchs J., Gasser T., Maraganore D.M., et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann. Neurol. 63 (2008) 743-750
27. Hastings P.J., Ira G., and Lupski J.R. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS. Genet. 5 (2009) e1000327
28. Woodward K.J., Cundall M., Sperle K., Sistermans E.A., Ross M., Howell G., Gribble S.M., Burford D.C., Carter N.P., Hobson D.L., et al. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am. J. Hum. Genet. 77 (2005) 966-987
29. Giorda R., Ciccone R., Gimelli G., Pramparo T., Beri S., Bonaglia M.C., Giglio S., Genuardi M., Argente J., Rocchi M., et al. Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum. Mutat. 28 (2007) 459-468
30. Small K., Iber J., and Warren S.T. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat. Genet. 16 (1997) 96-99
31. Aradhya S., Bardaro T., Galgoczy P., Yamagata T., Esposito T., Patlan H., Ciccodicola A., Munnich A., Kenwrick S., Platzer M., et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum. Mol. Genet. 10 (2001) 2557-2567
32. Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M., et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat. Genet. 38 (2006) 999-1001
33. Shaw-Smith C., Pittman A.M., Willatt L., Martin H., Rickman L., Gribble S., Curley R., Cumming S., Dunn C., Kalaitzopoulos D., et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat. Genet. 38 (2006) 1032-1037
34. Sharp A.J., Hansen S., Selzer R.R., Cheng Z., Regan R., Hurst J.A., Stewart H., Price S.M., Blair E., Hennekam R.C., et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38 (2006) 1038-1042
35. Visser R., Shimokawa O., Harada N., Kinoshita A., Ohta T., Niikawa N., and Matsumoto N. Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am. J. Hum. Genet. 76 (2005) 52-67