A 10.46Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1745-1752

  Soysal, Yasemin ^a   Vermeesch, Joris ^b   Davani, Nooshin Ardeshir ^b   Hekimler, Kuyaş ^a   Imirzalioǧlu, Necat ^a  

^a AFYON KOCATEPE UNIVERSITY   (Turkey)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Array CGH; Autism; Chromosome 12p; Developmental disorders; Interstitial deletion; NRXN1 (neurexin 1); Scoliosis

Indexed keywords

ARTICLE; AUTISM; BRACHYDACTYLY; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME 2P; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; GENE; GENE DELETION; HUMAN; HYPERTELORISM; INTERSTITIAL CHROMOSOME DELETION; JOINT HYPERMOBILITY; KARYOTYPE 46,XX; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; NRXN1 GENE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; SCHOOL CHILD; SCOLIOSIS; SPINE RADIOGRAPHY; TOOTH MALFORMATION; WECHSLER INTELLIGENCE SCALE; CHROMOSOME 12; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; GENETICS; PATHOLOGY; RADIOGRAPHY; SPINE;

NERVE CELL ADHESION MOLECULE; NERVE PROTEIN; NRXN1 PROTEIN, HUMAN;

AUTISTIC DISORDER; CELL ADHESION MOLECULES, NEURONAL; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HUMANS; NERVE TISSUE PROTEINS; PHENOTYPE; SCOLIOSIS; SPINE;

EID: 79959497266     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34101     Document Type: Article

References (28)

1. Baehring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Muhl A, Wienker TF, Schuster H, Luft FC. 1997. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet 60: 732-735.
2. Boilly-Dartigalongue B, Riviere D, Junien C, Couturier J, Toudic L, Marie F, Castel Y. 1985. A new case of partial monosomy of chromosome 12, del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B. Ann Genet 28: 55-57.
3. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. 2009. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5: e1000536.
4. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL, Children's Hospital Boston Genotype Phenotype Study Group. 2010. Deletions of NRXN1 [Neurexin 1] predispose to a wide spectrum of developmental disorders. Am J Med Genet Part B 153B: 937-947.
5. Fryns JP, Kleczkowska A, Van den Berge H. 1990. Interstitial deletion of the short arm of chromosome 12. Ann Genet 33: 43-45.
6. Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H. 2003. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies. Am J Med Genet Part A 116A: 66-70.
7. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
8. Ichtchenko K, Nguyen T, Sudhof TC. 1996. Structures, alternative splicing, and neurexin binding of multiple neuroligins. J Biol Chem 271: 2676-2682.
9. Kivlin J, Fineman R, Williams M. 1985. Phenotypic variation in the del(12p) syndrome. Am J Med Genet 22: 769-779.
10. Lu H-Y, Cui Y-X, Shi Y-C, Xia X-Y, Liang Q, Yao B, Ge Y-F, Li X-J, Huang Y-F. 2009. A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH. Am J Med Genet Part A 149A: 2321-2323.
11. MacDonald AH, Rodriguez L, Acena I, Martinez-Fernandez ML, Sanchez-Izquierdo D, Zuazo E, Martinez-Frias ML. 2010. Subtelomeric deletion of 12p: Description of a third case and review. Am J Med Genet Part A 152A: 1561-1566.
12. Magenis E, Brown MG, Chamberlin J, Donlon T, Hepburn D, Lamvik N, Lovrien E, Yoshitomi M. 1981. Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. Am J Med Genet 9: 95-103.
13. Magnelli NC, Therman E. 1975. Partial 12p deletion: A cause of a mental retardation, multiple congenital abnormality syndrome. J Med Genet 12: 105-108.
14. Malpuech G, Kaplan J-Cl, Rethore MO, Junien Cl, Geneix A. 1975. Une observation de deletion partielle du bras court du chromosome 12. Lyon Med 233: 275-279.
15. Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. 1995. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 55: 16-18.
16. Nam CI, Chen L. 2005. Postsynaptic assembly induced by neurexin-neuroligin interaction and neurotransmitter. Proc Natl Acad Sci USA 102: 6137-6142.
17. Nussbaum J, Xu Q, Payne TJ, Ma JZ, Huang W, Gelernter J, Ming DLi. 2008. Significant association of the neurexin 1 gene (NRXN1) with nicotine dependence in European and African American smokers. Hum Mol Genet 17: 1569-1577.
18. Orye E, Craen M. 1975. Short arm deletion of chromosome 12: Report of two new cases. Humangenetik 28: 335-342.
19. Rujescu D, Ingason A, Cichon S, Pietiläinen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Möller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, GROUP Investigators, Sabatti C, Ophoff RA, Rietschel M, Nöthen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA. 2009. Distruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 18: 988-996.
20. Stumm M, Klopocki E, Gasiorek-Wiens A, Ute Knoll, Wirjadi D, Sarioglu N, Wegner R-D, Tönnies H. 2007. Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis. Prenat Diagn 27: 475-478.
21. Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ, 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-328.
22. Tabuchi K, Sudhof TC. 2002. Structure and evolution of neurexin genes: Insight into the mechanism of alternative splicing. Genomics 79: 849-859.
23. Tenconi R, Baccichetti C, Anglani F, Pellergrino PA, Kaplan JC, Junien C. 1975. Partial deletion of the short arm of chromosome 12(p11;p13). Ann Genet 18: 95-98.
24. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto Al, Herman El, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweenery JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. 2009. Common Genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
25. Wiśniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Lance Cooper M, Savage S, Amato RS, Bader P, Browning MF, Haun CL, Duda AW 3rd, Cheung SW, Stankiewicz P. 2010. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet Part B 153B: 983-993.
26. Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS. 2008. Neurexin 1alpha structural variants associated with autism. Neurosci Lett 438: 368-370.
27. Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes ND, Pugh T, Marra MA, Friedman JM. 2008. A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 alpha. J Med Genet 45: 239-243.
28. Zeng Z, Sharpe CR, Simons JP, Gorecki DC. 2006. The expression and alternative splicing of alpha-neurexins during Xenopus development. Int J Dev Biol 50: 39-46.