Chromosome 22q13 rearrangements causing global developmental delay and autistic spectrum disorder

Monographs in Human Genetics

Volumn 18, Issue , 2010, Pages 137-150

  Bonaglia, M C ^a   Giorda, R ^a   Ciccone, R ^b   Zuffardi, O ^b,c  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84870042431     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000287603     Document Type: Article

References (87)

1. Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, et al:22q13 deletion syndrome. Am J Med Genet 2001;101:91-99.
2. Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS: A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. J Med Genet 1985;22:283-287. (Pubitemid 15240348)
3. Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, McDermid HE: Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 1992;43:872-876.
4. Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, et al: Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994;54:464-472. (Pubitemid 24068227)
5. Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE: Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet 1997;60:113-120. (Pubitemid 26427785)
6. Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O: Disruption of the ProSAP2 gene in a t (12;22) (q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 2001;69:261-268. (Pubitemid 32695199)
7. Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, et al: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006;43:822-828. (Pubitemid 44654743)
8. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, et al: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007;39:25-27. (Pubitemid 46026497)
9. Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, et al: Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007;81:1289-1297. (Pubitemid 350211458)
10. Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M: FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 2002;110:439-443. (Pubitemid 36074989)
11. Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, et al: Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics 2008;122:e376-382.
12. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE: The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-140.
13. Knight SJ, Flint J: Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 2000;37:401-409. (Pubitemid 30386730)
14. De Vries BB, White SM, Knight SJ, Regan R, Homfray T, et al: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001;38:145-150. (Pubitemid 32250864)
15. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, et al: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-1681. (Pubitemid 29533057)
16. Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, et al: Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH. Am J Med Genet 2000;96:839-844.
17. Praphanphoj V, Goodman BK, Thomas GH, Raymond GV: Cryptic subtelomeric translocations in the 22q13 deletion syndrome. J Med Genet 2000;37:58-61. (Pubitemid 30245878)
18. Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE: Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin Genet 2000;57:103-109. (Pubitemid 30116588)
19. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, et al: Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 2004;114:451-457. (Pubitemid 39006674)
20. Abrahams BS, Geschwind DH: Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008;9:341-355. (Pubitemid 351556064)
21. Nair-Miranda K, Murch A, Petterson B, Hill W, Nikolova-Hill A, et al: An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2004;125:99-104. (Pubitemid 38141412)
22. Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG: Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003;64:310-316. (Pubitemid 37236131)
23. Slavotinek A, Shaffer LG, Shapira SK: Monosomy 1p36. J Med Genet 1999;36:657-663. (Pubitemid 29433722)
24. Sismani C, Armour JA, Flint J, Girgalli C, Regan R, Patsalis PC: Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 2001;9:527-532. (Pubitemid 32750493)
25. Rooms L, Reyniers E, Van Luijk R, Scheers S, Wauters J, et al: Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 2004;23:17-21. (Pubitemid 38056097)
26. Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, et al: An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320-332. (Pubitemid 30618039)
27. Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, et al: Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 2009 in press.
28. Luciani JJ, De Mas P, Depetris D, Mignon-Ravix C, Bottani A, et al: Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet 2003;40:690-696. (Pubitemid 37100703)
29. Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J: Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet 2005;137:139-147. (Pubitemid 41262680)
30. MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ: Ring chromosome 22 and autism: report and review. Am J Med Genet 2000;90:382-385. (Pubitemid 30080636)
31. Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, et al: Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. Am J Med Genet A 2004;130:196-199. (Pubitemid 39303556)
32. Kosztolányi G: Does 'ring syndrome' exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 1987;75:174-179. (Pubitemid 17017714)
33. Phelan MC, Brown EF, Rogers RC: Prenatal diagnosis of mosaicism for deletion 22q13.3. Prenat Diagn 2001;21:1100. (Pubitemid 34056196)
34. Yong YP, Knight LA, Yong MH, Lam S, Ho LY: Partial monosomy for chromosome 22 in a girl with mental retardation. Singapore Med J 1997;38:85-86. (Pubitemid 127510608)
35. Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, et al: Further delineation of the 22q13 deletion syndrome. Clin Dysmorphol 2005;14:55-60. (Pubitemid 40477496)
36. Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, et al: Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. Eur J Hum Genet 2009;17:426-433.
37. Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A: Prenatal diagnosis of mosaicism for a del (22) (q13). Prenat Diagn 2000;20:76-79.
38. Abeliovich D, Maor E, Bashan N, Carmi R: Duplication of distal 22q. Am J Med Genet 1989;32:346-349. (Pubitemid 19146534)
39. Barajas-Barajas LO, Valdez LL, Gonzalez JR, García-García C, Rivera H, Ramírez L: Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes. Genet Couns 2004;15:167-173. (Pubitemid 38899374)
40. Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K: Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 1995;58:389-394.
41. Cantu JM, Hernandez A, Vaca G, Plascencia L, Martinez-Basalo C, Ibarra B, Rivera H: Trisomy 22q12 leads to qter: 'aneusomie de recombinaison' of a pericentric inversion. Ann Genet 1981;24:37-40. (Pubitemid 11138762)
42. Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM: Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. Eur J Med Genet 2006;49:384-395.
43. Fryns JP, De Backer D, Lemli L, Pedersen JC, Van Den Berghe H: Partial duplication of the long arm of chromosome 22 (22q13) with complete 22 trisomy phenotype. Acta Paediatr Belg 1980;33:125-127. (Pubitemid 10007286)
44. Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo T, et al:22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome? Am J Med Genet A 2007;143 A: 2804-2809. (Pubitemid 350228741)
45. Petek E, Köstl G, Mutz I, Wagner K, Kroisel PM: Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH. Clin Dysmorphol 2000;9:55-57. (Pubitemid 30051729)
46. Rivera H, Garcia-Esquivel L, Romo MG, Perez-Garcia G, Martinez y Martinez R: The 22q distal trisomy syndrome in a recombinant child. Ann Genet 1988;31:47-49. (Pubitemid 18050252)
47. Schinzel A: Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t (6;22) (q27;q13), Hum Genet 1981;56:263-268. (Pubitemid 11138160)
48. Peeters H, Vermeesch J, Fryns JP: A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Genet Couns 2008;19:365-371.
49. Wieczorek D, Holtvogt J, Thonig S, Gillessen-Kaesbach G: A female patient with partial duplication 22 (q13.qter). Clin Dysmorphol 1998;7:289-294. (Pubitemid 28518763)
50. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477-488.
51. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009;459:569-573.
52. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, et al: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006;43:478-489. (Pubitemid 43927321)
53. Gajecka M, Saadeh R, Mackay KL, Glotzbach CD, Spodar K, Chitayat D, Shaffer LG: Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der (1) t (1;22) (p36;q13). Am J Med Genet A 2008;146 A: 2777-2784.
54. Jamsheer A, Smyk M, Wierzba J, Kolowska J, Wozniak A, et al: Subtle familial translocation t (11;22) (q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps. J Appl Genet 2008;49:397-405.
55. Zuffardi O, Bonaglia M, Ciccone R, Giorda R: Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet 2009;75:505-513.
56. Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, et al: Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet 2005;13:1019-1024. (Pubitemid 43073608)
57. Roussignol G, Ango F, Romorini S, Tu JC, Sala C, et al: Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. J Neurosci 2005;25:3560-3570.
58. Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, et al: Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 2003;40:575-584. (Pubitemid 37046910)
59. Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, et al: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004;101:14162-14167. (Pubitemid 39305047)
60. Wells RD: Non-B DNA conformations, mutagenesis and disease. Trends Biochem Sci 2007;32:271-278. (Pubitemid 46874927)
61. Persico AM, Bourgeron T: Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006;29:349-358. (Pubitemid 44108247)
62. Cusmano-Ozog K, Manning MA, Hoyme HE: 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 2007;145 C: 393-398. (Pubitemid 350155978)
63. Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, et al: Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet 2009;150 B: 421-424.
64. Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA, McDermid HE: Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13. Genomics 1999;59:326-334. (Pubitemid 29406914)
65. Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, et al: Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3. Eur J Med Genet 2009;52:328-332.
66. Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, et al: Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008;16:1301-1310.
67. Sheng M, Kim E: The Shank family of scaffold proteins. J Cell Sci 2000;113:1851-1856. (Pubitemid 30386489)
68. Sala C, Piëch V, Wilson NR, Passafaro M, Liu G, Sheng M: Regulation of dendritic spine morphology and synaptic function by Shank and Homer. Neuron 2001;31:115-130. (Pubitemid 32757093)
69. Sala C, Futai K, Yamamoto K, Worley PF, Hayashi Y, Sheng M: Inhibition of dendritic spine morphogenesis and synaptic transmission by activity-inducible protein Homer1a. J Neurosci 2003;23:6327-6337. (Pubitemid 36875634)
70. Sala C, Roussignol G, Meldolesi J, Fagni L: Key role of the postsynaptic density scaffold proteins Shank and Homer in the functional architecture of Ca2+ homeostasis at dendritic spines in hippocampal neurons. J Neurosci 2005;25:4587-4592. (Pubitemid 40629149)
71. Qualmann B, Boeckers TM, Jeromin M, Gundelfinger ED, Kessels MM: Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family. J Neurosci 2004;24:2481-2495. (Pubitemid 38332004)
72. Böckers TM, Mameza MG, Kreutz MR, Bockmann J, Weise C, et al: Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alphafodrin. J Biol Chem 2001;276:40104-40112.
73. Park E, Na M, Choi J, Kim S, Lee JR, et al: The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42. J Biol Chem 2003;278:19220-19229. (Pubitemid 36799313)
74. Soltau M, Richter D, Kreienkamp HJ: The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. Mol Cell Neurosci 2002;21:575-583. (Pubitemid 36062715)
75. Romorini S, Piccoli G, Jiang M, Grossano P, Tonna N, et al: A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses. J Neurosci 2004;24:9391-9404. (Pubitemid 39429502)
76. Ching TT, Maunakea AK, Jun. P, Hong C, Zardo G, et al: Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3. Nat Genet 2005;37:645-651. (Pubitemid 40770422)
77. Beri S, Tonna N, Menozzi G, Bonaglia MC, Sala C, Giorda R: DNA methylation regulates tissue-specific expression of Shank3. J Neurochem 2007;101:1380-1391. (Pubitemid 46718829)
78. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al: Strong association of de novo copy number mutations with autism. Science 2007;316:445-449. (Pubitemid 46651493)
79. Wiech NL, Fisher JF, Helquist P, Wiest O: Inhibition of histone deacetylases: a pharmacological approach to the treatment of non-cancer disorders. Curr Top Med Chem 2009;9:257-271.
80. Benedict C, Hallschmid M, Hatke A, Schultes B, Fehm HL, Born J, Kern W: Intranasal insulin improves memory in humans. Psychoneuroendocrinology 2004;29:1326-1334. (Pubitemid 39024358)
81. Benedict C, Hallschmid M, Schmitz K, Schultes B, Ratter F, Fehm HL, Born J, Kern W: Intranasal insulin improves memory in humans: superiority of insulin aspart. Neuropsychopharmacology 2007;32:239-243. (Pubitemid 44967803)
82. Reger MA, Watson GS, Green PS, Baker LD, Cholerton B, et al: Intranasal insulin administration dose dependently modulates verbal memory and plasma amyloidbeta in memory-impaired older adults. J Alzheimers Dis 2008;13:323-331. (Pubitemid 352039034)
83. Reger MA, Watson GS, Green PS, Wilkinson CW, Baker LD, et al: Intranasal insulin improves cognition and modulates beta-amyloid in early AD. Neurology 2008;70:440-448.
84. Schmidt H, Kern W, Giese R, Hallschmid M, Enders A: Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial. J Med Genet 2009;46:217-222.
85. Pasini A, D'Agati E, Casarelli L, Curatolo P: Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome. Brain Dev 2009; in press.
86. Choi YK, Gardner MP, Tarazi FI: Effects of risperidone on glutamate receptor subtypes in developing rat brain. Eur Neuropsychopharmacol 2009;19:77-84.
87. Pramparo T, De Gregori M, Gimelli S, Ciccone R, Frondizi D, et al: A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A 2008;146 A: 1754-60. (Pubitemid 351975488)