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Autor     Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia1, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons9, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann1, Danielle Martinet1, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan- Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung- Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer
Titel    Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats
Zeitschrift    Human Mutation
Ausgabe    33
Datum    January 2012
Nummer    1
Seiten    165-179
DOI    10.1002/humu.21614
URL    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655525/pdf/nihms-461551.pdf

Literaturverz.   

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Fußnoten    no
Fragmente    3


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[1.] Mmu/Fragment 016 27 - Diskussion
Zuletzt bearbeitet: 2014-12-27 11:59:53 Hindemith
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1.8 Microdeletion and microduplication in 10q11.22

To date, interstitial deletions involving 10q11.2 have been reported in over 40 patients with variable abnormal phenotypes but also in individuals with a normal phenotype. The only clinical features common to a majority of affected individuals [were ID and DD.]

To date, interstitial deletions involving 10q11.2 have been reported in over 10 patients with variable abnormal phenotypes, individuals with a normal phenotype, and two prenatal cases, one with a normal and the other with an abnormal phenotype [Bisgaard et al., 2007; Fewtrell et al., 1994; Fryns et al., 1991; Ghai et al., 2011; Holden and MacDonald, 1985; Kirchhoff et al., 2005; Lobo et al., 1992; Shapiro et al., 1985; Zenger-Hain et al., 1993].
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The source is mentioned right after the documented passage.

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[2.] Mmu/Fragment 017 01 - Diskussion
Zuletzt bearbeitet: 2014-12-18 06:35:25 SleepyHollow02
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Stankiewicz and colleagues identified 24 unrelated individuals carrying a microdeletions [sic] at 10q11.21q11.23 ranging in size from ı1.9 to ı10.9 Mb. They also identified 17 individuals with reciprocal microduplications involving 10q11.21q21.1, ranging in size from ı0.3 to ı12 Mb (Stankiewicz 2010). A complex arrangement of six segmental duplication clusters have been identified in the 10q11.21q11.23 region, labelled LCR 10q11.2A-LCR10q11.2F. These segmental duplications range in size from 32 to 427 kb and have a complex evolutionary structure.

23. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010;61:437-55. Review.

We identified 24 unrelated individuals with microdeletions at 10q11.21q11.23 by chromosomal microarray analysis. The deletions range in size from ~1.9 to ~10.9 Mb (Tables 1 and 2; Figs. 1–3).

We have also identified 17 individuals with reciprocal microduplications involving 10q11.21q21.1, ranging in size from ~0.3 to ~12 Mb (Table 3; Fig. 3).

Using the hg18 build of the UCSC genome browser [Bailey et al., 2001] and the hg17 build of the Human Genome Segmental Duplication Database, we identified a complex arrangement of six segmental duplication clusters in the 10q11.21q11.23 region, labeled LCR 10q11.2A-LCR10q11.2F (Fig. 3). These segmental duplications range in size from 32 to 427 kb and have a complex evolutionary structure [Deloukas et al., 2004].

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[3.] Mmu/Fragment 092 01 - Diskussion
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[6. CONCLUSIONS and FUTURE PERSPECTIVES]

The conventional wisdom surrounding genomic disorders posits that they fit several criteria: the deletions/duplications are large, highly penetrant, de novo in the majority of individuals, and associated with a uniform constellation of clinical features (Mefford and Eichler, 2009). Smith-Magenis syndrome, Prader-Willi syndrome, and Williams-Beuren syndrome are examples of such “classic” genomic disorders. In contrast to these “classic” genomic disorders, many of the more recently described recurrent genomic lesions identified in large case–control studies demonstrate apparently diverse phenotypes and are frequently inherited while showing reduced penetrance (Klopocki et al., 2007; Mefford et al., 2008; Sharp et al., 2008).

Several explanations have been proposed for the variable expressivity and clinical heterogeneity in some genomic disorders. First, atypical or variable-sized copy number changes may account for the variable phenotypes in some apparently recurrent lesions. A “two-hit” model has also recently been proposed to account for phenotypic variability. One hit may be sufficient to reach a threshold that results in mild neurodevelopmental deficits, whereas a second hit is necessary for the development of a more severe neurological phenotype. Alternatively, the abnormal phenotype in patients with a heterozygous deletion can result from unmasking of a recessive mutation or functional polymorphism of the remaining allele.


34. Klopocki E, et al. 2007. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia- absent radius syndrome. Am J Hum Genet 80:232–240.

54.Mefford HC, et al. 2008. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359:1685–1699.

73. Sharp AJ, et al 2008. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40:322–328.

[Page 7]

Discussion

The conventional wisdom surrounding genomic disorders posits that they fit several criteria: the deletions/duplications are large, highly penetrant, de novo in the majority of individuals, and associated with a uniform constellation of clinical features [Mefford and Eichler, 2009]. Smith-Magenis syndrome, Prader-Willi syndrome, and Williams-Beuren syndrome are examples of such “classic” genomic disorders. In contrast to these “classic” genomic disorders, many of the more recently described recurrent genomic lesions identified in large case–control studies demonstrate apparently diverse phenotypes and are frequently inherited while showing reduced penetrance [Ensenauer et al., 2003; Hannes et al., 2008; Klopocki et al., 2007; Mefford et al., 2008; Sharp et al., 2008., Ullmann et al., 2007; Yobb et al., 2005].

[Page 8]

Several explanations have been proposed for the variable expressivity and clinical heterogeneity in some genomic disorders. First, atypical or variable-sized copy number changes may account for the variable phenotypes in some apparently recurrent lesions. [...]

A “two-hit” model has also recently been proposed to account for phenotypic variability; it was first used to describe the recurrent deletion 16p12.1 [Girirajan et al., 2010]. [...] One hit may be sufficient to reach a threshold that results in mild neurodevelopmental deficits, whereas a second hit is necessary for the development of a more severe neurological phenotype, including ID/DD, ASDs, or schizophrenia [Girirajan and Eichler, 2010].

[Page 9]

Alternatively, the abnormal phenotype in patients with a heterozygous deletion of a gene responsible for an autosomal recessive trait can result from unmasking of a recessive mutation or functional polymorphism of the remaining allele [Kurotaki et al., 2005].


Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet. 2003; 73:1027–1040. [PubMed: 14526392]

Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet. 2010; 19:R176–187. [PubMed: 20807775]

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. A recurrent 16p12.1 microdeletion supports a twohit model for severe developmental delay. Nat Genet. 2010; 42:203–209. [PubMed: 20154674]

Klopocki E, Schulze H, Strauss G, Ott C-E, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers H-H, Ullmann R, Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80:232–240. [PubMed: 17236129]

Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Hoglund P, Okamoto N, Lupski JR. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005; 7:479–483. [PubMed: 16170239]

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008; 359:1685–1699. [PubMed: 18784092]

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008; 40:322–328. [PubMed: 18278044]

Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Muller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. ArrayCGHidentifiesreciprocal16p13.1duplicationsanddeletionsthatpredispose to autism and/or mental retardation. Hum Mutat. 2007; 28:674–682. [PubMed: 17480035]

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet. 2005; 76:865–876. [PubMed: 15800846]

Anmerkungen

The first part of the Conclusions has been copied verbatim from the paper Stankiewicz et al 2012, which according to her own list of references has been known to MMu.

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