Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Gilling, Mette ^a   Lind Thomsen, Allan ^a   Mang, Yuan ^a   Bak, Mads ^a   Møller, Morten ^a   Ullmann, Reinhard ^b   Kristoffersson, Ulf ^c   Kalscheuer, Vera M ^a   Henriksen, Karen Friis ^a   Bugge, Merete ^a   Tümer, Zeynep ^a   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Biparental inheritance; Deletion; Duplication; Inversion; Mental retardation; Translocation

Indexed keywords

ALPHA INTERFERON; BAALC PROTEIN; CADHERIN 9; FRIZZLED 6 PROTEIN; FRIZZLED PROTEIN; PROTEIN; RIM2 PROTEIN; UNCLASSIFIED DRUG; ZBTB7C PROTEIN; ZINC FINGER PROTEIN;

ARTICLE; CHROMOSOME; CHROMOSOME 18Q21; CHROMOSOME 5P14; CHROMOSOME 8Q22; CHROMOSOME 9P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; EXOME; GENE CLUSTER; HUMAN; INHERITANCE; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; MONOZYGOTIC TWINS; MOTOR DEVELOPMENT;

ANIMALS; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, PAIR 9; EXONS; GENE EXPRESSION REGULATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEIN INTERACTION MAPPING; PROTEINS; RNA, MESSENGER; TRANSLOCATION, GENETIC; TWINS, MONOZYGOTIC;

EID: 79960076288     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.008     Document Type: Article

References (29)

1. Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 2002, 8:117-134.
2. Ropers H.H. Genetics of intellectual disability. Curr. Opin. Genet. Dev. 2008, 18:241-250.
3. Petrij F., Giles R.H., Dauwerse H.G., Saris J.J., Hennekam R.C., Masuno M., Tommerup N., van Ommen G.J., Goodman R.H., Peters D.J. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995, 376:348-351.
4. Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A., Devon R.S., Clair D.M., Muir W.J., Blackwood D.H., Porteous D.J. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum. Mol. Genet. 2000, 9:1415-1423.
5. Alkuraya F.S., Saadi I., Lund J.J., Turbe-Doan A., Morton C.C., Maas R.L. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 2006, 313:1751.
6. Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J. Med. Genet. 1993, 30:713-727.
7. Girirajan S., Rosenfeld J.A., Cooper G.M., Antonacci F., Siswara P., Itsara A., Vives L., Walsh T., McCarthy S.E., Baker C., Mefford H.C., Kidd J.M., Browning S.R., Browning B.L., Dickel D.E., Levy D.L., Ballif B.C., Platky K., Farber D.M., Gowans G.C., Wetherbee J.J., Asamoah A., Weaver D.D., Mark P.R., Dickerson J., Garg B.P., Ellingwood S.A., Smith R., Banks V.C., Smith W., McDonald M.T., Hoo J.J., French B.N., Hudson C., Johnson J.P., Ozmore J.R., Moeschler J.B., Surti U., Escobar L.F., El-Khechen D., Gorski J.L., Kussmann J., Salbert B., Lacassie Y., Biser A., Donald-McGinn D.M., Zackai E.H., Deardorff M.A., Shaikh T.H., Haan E., Friend K.L., Fichera M., Romano C., Gecz J., DeLisi L.E., Sebat J., King M.C., Shaffer L.G., Eichler E.E. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 2010, 42:203-209.
8. Bugge M., Petersen M.B., Christensen M.F. Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am. J. Med. Genet. 1994, 52:223-226.
9. Erdogan F., Chen W., Kirchhoff M., Kalscheuer V.M., Hultschig C., Muller I., Schulz R., Menzel C., Bryndorf T., Ropers H.H., Ullmann R. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet. Genome Res. 2006, 115:247-253.
10. Pfaffl M.W., Tichopad A., Prgomet C., Neuvians T.P. Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper-Excel-based tool using pair-wise correlations. Biotechnol. Lett. 2004, 26:509-515.
11. Moller M., Phansuwan-Pujito P., Morgan K.C., Badiu C. Localization and diurnal expression of mRNA encoding the beta1-adrenoceptor in the rat pineal gland: an in situ hybridization study. Cell Tissue Res. 1997, 288:279-284.
12. Flicek P., Aken B.L., Ballester B., Beal K., Bragin E., Brent S., Chen Y., Clapham P., Coates G., Fairley S., Fitzgerald S., Fernandez-Banet J., Gordon L., Graf S., Haider S., Hammond M., Howe K., Jenkinson A., Johnson N., Kahari A., Keefe D., Keenan S., Kinsella R., Kokocinski F., Koscielny G., Kulesha E., Lawson D., Longden I., Massingham T., McLaren W., Megy K., Overduin B., Pritchard B., Rios D., Ruffier M., Schuster M., Slater G., Smedley D., Spudich G., Tang Y.A., Trevanion S., Vilella A., Vogel J., White S., Wilder S.P., Zadissa A., Birney E., Cunningham F., Dunham I., Durbin R., Fernandez-Suarez X.M., Herrero J., Hubbard T.J., Parker A., Proctor G., Smith J., Searle S.M. Ensembl's 10th year. Nucleic Acids Res. 2010, 38:D557-D562.
13. Lage K., Karlberg E.O., Storling Z.M., Olason P.I., Pedersen A.G., Rigina O., Hinsby A.M., Tumer Z., Pociot F., Tommerup N., Moreau Y., Brunak S. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat. Biotechnol. 2007, 25:309-316.
14. Gilling M., Dullinger J.S., Gesk S., Metzke-Heidemann S., Siebert R., Meyer T., Brondum-Nielsen K., Tommerup N., Ropers H.H., Tumer Z., Kalscheuer V.M., Thomas N.S. Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans. Am. J. Hum. Genet. 2006, 78:878-883.
15. Reuter S., Bartelmann M., Vogt M., Geisen C., Napierski I., Kahn T., Delius H., Lichter P., Weitz S., Korn B., Schwarz E. APM-1, a novel human gene, identified by aberrant co-transcription with papillomavirus oncogenes in a cervical carcinoma cell line, encodes a BTB/POZ-zinc finger protein with growth inhibitory activity. EMBO J. 1998, 17:215-222.
16. Shoichet S.A., Hoffmann K., Menzel C., Trautmann U., Moser B., Hoeltzenbein M., Echenne B., Partington M., van B.H., Moraine C., Fryns J.P., Chelly J., Rott H.D., Ropers H.H., Kalscheuer V.M. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am. J. Hum. Genet. 2003, 73:1341-1354.
17. Kleefstra T., Yntema H.G., Oudakker A.R., Banning M.J., Kalscheuer V.M., Chelly J., Moraine C., Ropers H.H., Fryns J.P., Janssen I.M., Sistermans E.A., Nillesen W.N., de Vries L.B., Hamel B.C., Van B.H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J. Med. Genet. 2004, 41:394-399.
18. Lugtenberg D., Yntema H.G., Banning M.J., Oudakker A.R., Firth H.V., Willatt L., Raynaud M., Kleefstra T., Fryns J.P., Ropers H.H., Chelly J., Moraine C., Gecz J., van R.J., Nabuurs S.B., de Vries B.B., Hamel B.C., de Brouwer A.P., Van B.H. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am. J. Hum. Genet. 2006, 78:265-278.
19. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A., Stephens P., Blow M., Greenman C., Xue Y., Tyler-Smith C., Thompson D., Gray K., Andrews J., Barthorpe S., Buck G., Cole J., Dunmore R., Jones D., Maddison M., Mironenko T., Turner R., Turrell K., Varian J., West S., Widaa S., Wray P., Teague J., Butler A., Jenkinson A., Jia M., Richardson D., Shepherd R., Wooster R., Tejada M.I., Martinez F., Carvill G., Goliath R., de Brouwer A.P., Van B.H., Van E.H., Chelly J., Raynaud M., Ropers H.H., Abidi F.E., Srivastava A.K., Cox J., Luo Y., Mallya U., Moon J., Parnau J., Mohammed S., Tolmie J.L., Shoubridge C., Corbett M., Gardner A., Haan E., Rujirabanjerd S., Shaw M., Vandeleur L., Fullston T., Easton D.F., Boyle J., Partington M., Hackett A., Field M., Skinner C., Stevenson R.E., Bobrow M., Turner G., Schwartz C.E., Gecz J., Raymond F.L., Futreal P.A., Stratton M.R. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 2009, 41:535-543.
20. Raison C.L., Demetrashvili M., Capuron L., Miller A.H. Neuropsychiatric adverse effects of interferon-alpha: recognition and management. CNS Drugs 2005, 19:105-123.
21. McAfoose J., Baune B.T. Evidence for a cytokine model of cognitive function. Neurosci. Biobehav. Rev. 2009, 33:355-366.
22. Laumonnier F., Bonnet-Brilhault F., Gomot M., Blanc R., David A., Moizard M.P., Raynaud M., Ronce N., Lemonnier E., Calvas P., Laudier B., Chelly J., Fryns J.P., Ropers H.H., Hamel B.C., Andres C., Barthelemy C., Moraine C., Briault S. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 2004, 74:552-557.
23. Stuebner S., Faus-Kessler T., Fischer T., Wurst W., Prakash N. Fzd3 and Fzd6 deficiency results in a severe midbrain morphogenesis defect. Dev. Dyn. 2010, 239:246-260.
24. Zhao C., Aviles C., Abel R.A., Almli C.R., McQuillen P., Pleasure S.J. Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval. Development 2005, 132:2917-2927.
25. Zweier C., de Jong E.K., Zweier M., Orrico A., Ousager L.B., Collins A.L., Bijlsma E.K., Oortveld M.A., Ekici A.B., Reis A., Schenck A., Rauch A. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am. J. Hum. Genet. 2009, 85:655-666.
26. Ching M.S., Shen Y., Tan W.H., Jeste S.S., Morrow E.M., Chen X., Mukaddes N.M., Yoo S.Y., Hanson E., Hundley R., Austin C., Becker R.E., Berry G.T., Driscoll K., Engle E.C., Friedman S., Gusella J.F., Hisama F.M., Irons M.B., Lafiosca T., LeClair E., Miller D.T., Neessen M., Picker J.D., Rappaport L., Rooney C.M., Sarco D.P., Stoler J.M., Walsh C.A., Wolff R.R., Zhang T., Nasir R.H., Wu B.L. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B:937-947.
27. Bekirov I.H., Needleman L.A., Zhang W., Benson D.L. Identification and localization of multiple classic cadherins in developing rat limbic system. Neuroscience 2002, 115:213-227.
28. Jontes J.D., Phillips G.R. Selective stabilization and synaptic specificity: a new cell-biological model. Trends Neurosci. 2006, 29:186-191.
29. 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., Fitzpatrick C.A., Segraves R., Richmond T.A., Guiver C., Albertson D.G., Pinkel D., Eis P.S., Schwartz S., Knight S.J., Eichler E.E. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 2006, 38:1038-1042.