16p11.2-p12.2 duplication syndrome; A genomic condition differentiated from euchromatic variation of 16p11.2

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 182-189

  Barber, John C K ^a   Hall, Victoria ^b   Maloney, Viv K ^b   Huang, Shuwen ^b   Roberts, Angharad M ^c   Brady, Angela F ^c   Foulds, Nicki ^d   Bewes, Beverley ^c   Volleth, Marianne ^e   Liehr, Thomas ^f   Mehnert, Karl ^g   Bateman, Mark ^b   White, Helen ^b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^c ST MARK S HOSPITAL   (United Kingdom)

^d PRINCESS ANNE HOSPITAL   (United Kingdom)

^e OTTO VON GUERICKE UNIVERSITY   (Germany)

^f JENA UNIVERSITY HOSPITAL   (Germany)

^g Genetikum Neu Ulm   (Germany)

Author keywords

16p11.2 p12.2; chromosome duplication; Chromosomes, human, pair 16; copy number variation; DNA array; euchromatic variant

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; G PROTEIN REGULATED INDUCER OF NEURITE GROWTH 2 GENE; GENE; GENETIC ANALYSIS; HECT DOMAIN PSEUDOGENE; HUMAN; INFANT; MALE; POLI LIKE KINASE 1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TP53 INDUCIBLE TARGET GENE 3;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AUTISTIC DISORDER; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTO-ONCOGENE PROTEINS;

EID: 84872501611     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.144     Document Type: Article

References (35)

1. Itsara A, Cooper GM, Baker C et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
2. Ghebranious N, Giampietro PF, Wesbrook FP et al. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet PartA 2007; 143A: 1462-1471.
3. Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675.
4. Walters RG, Jacquemont S, Valsesia A etal: A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463: 671-675.
5. Cohen MM, Lerner C, Balkin NE: Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment. Am J Med Genet 1983; 14: 89-96.
6. Carrasco Juan JL, Cigudosa JC, Otero Gomez A et al. De novo trisomy 16p. Am J Med Genet 1997; 68:219-221.
7. Engelen JJ, de Die-Smulders CE, Dirckx R et al. Duplication of chromosome region (16) (p11.2->p12.1) in a mother and daughter with mild mental retardation. Am J Med Genet 2002; 109: 149-153.
8. Finelli P, Natacci F, Bonati MT et al. FISH characterisation of an identical (16) (p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour. J Med Genet 2004; 41: e90.
9. Behjati F, Shafaghati Y, Firouzabadi SG et al. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism. Eur J Med Genet 2008; 51: 608-614.
10. Ballif BC, Hornor SA, Jenkins E et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 2007; 39: 1071-1073.
11. Tabet AC, Pilorge M, Delorme R et al. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet 2012; 20: 540-546.
12. Battaglia A, Novelli A, Bernardini L et al. Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am J Med Genet PartA 2009; 149A: 1200-1204.
13. Hempel M, Rivera Brugués N, Wagenstaller J et al. Microdeletion syndrome 16p11. 2-p12.2: clinical and molecular characterization. Am J Med Genet Part A 2009; 149A: 2106-2112.
14. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009; 52: 77-87.
15. Bachmann-Gagescu R, Mefford HC, Cowan C et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med 2010; 12: 641-647.
16. Barge-Schaapveld DQCM, Maas SM, Polstra A et al. The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? Am J Med Genet Part A 2011; 155: 1066-1072.
17. Girirajan S, Rosenfeld JA, Cooper GM etal: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-209.
18. Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005; 42: 609-629.
19. Barber JC, Reed CJ, Dahoun SP et al. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 1999; 104: 211-218.
20. Lopez Pajares I, Villa O, Salido M et al. Euchromatic variant 16p+ implications in prenatal diagnosis. Prenat Diagn 2006; 26: 535-538.
21. Ronaghi M, Uhlén M, Nyrén P: A sequencing method based on real-time pyropho-sphate. Science 1998; 281: 363-365.
22. BarberJC, MaloneyVK, HuangS etal: 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. EurJ Hum Genet 2008; 16: 18-27.
23. Eichler EE, Lu F, Shen Yetal: Duplication of a generich cluster between 16p11.1 and Xq28: a novel pericentromeric directed mechanism for paralogous genome evolution. Hum Mol Genet 1996; 5: 899-913.
24. Whitby H, Tsalenko A, Aston E et al. Benign copy number changes in clinical cytogenetic diagnostics by array CGH. Cytogenet Genome Res 2008; 123: 94-101.
25. Bourthoumieu S, Esclaire F, Terro F et al. First prenatally diagnosed case of 16p11.2p12.1 duplication. Prenat Diagn 2008; 28: 254-256.
26. Huang N, LeeI, MarcotteEMetal:Characterising and predictinghaploin sufficiency in the human genome. PLoS Genet 2010; 6: e1001154.
27. Wang H, Ouyang Y, Somers WG et al. Polo inhibits progenitor self-renewal and regulates Numb asymmetry by phosphorylating Pon. Nature 2007; 449: 96-100.
28. Girirajan S, Eichler EE: A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay. Hum Mol Genet 2010; 19: R176-R187.
29. Artuso R, Papa FT, Grillo E et al. Investigation of modifier genes within copy number variations in Rett syndrome. J Hum Genet 2011; 56: 508-515.
30. Li F, Shen Y Köhler U et al. Interstitial microduplication of Xp22.31: causative of intellectual disabilityor benign copy number variant? EurJ Med Genet2010; 53: 93-99.
31. Furrow A, Theisen A, Velsher L et al: Duplication of theSTS region in males is a benign copy-number variant. Am J Med Genet PartA 2011; 155A: 1972-1975.
32. Hastings PJ, Lupski JR, Rosenberg SM et al. Mechanisms of change in gene copy number. Nat Rev Genet 2009; 10: 551-564.
33. Guenthoer J, Diede SJ, Tanaka H et al. Assessment of palindromes as platforms for DNA amplification in breast cancer. Genome Res 2012; 22: 232-245.
34. Hall V, Maloney VK, White H etal: The use of pyrosequencingto identify copy number variation of 16p11.2 in euchromatic variant carriers and the normal population. J Med Genet 2006; 43(Suppl1): 3.26.
35. Fode P, Jespersgaard C, Hardwick RJ et al. Determination of beta-defensin genomic copy number in different populations: a comparison of three methods. PLoS One 2011; 6: e16768.