22q11 deletion syndrome: Current perspective

Application of Clinical Genetics

Volumn 8, Issue , 2015, Pages 123-132

  Hacıhamdioğlu, Bülent ^a   Hacıhamdioğlu, Duygu ^a   Delil, Kenan ^b  

^a GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

^b MARMARA UNIVERSITY   (Turkey)

Author keywords

DiGeorge syndrome; TBX1; Velocardiofacial syndrome

Indexed keywords

ANTIREFLUX AGENT; CALCIUM DERIVATIVE; DIGESTIVE TRACT AGENT; IMMUNOGLOBULIN; PARATHYROID HORMONE[1-34]; T BOX TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VITAMIN D DERIVATIVE;

BONE DEVELOPMENT; BRAIN DEVELOPMENT; CHILD CARE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CHROMOSOME IDENTIFICATION; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL DEVELOPMENT; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DIGEORGE SYNDROME; DIGESTIVE TRACT INTUBATION; DISEASE COURSE; DISEASE PREDISPOSITION; EARLY DIAGNOSIS; ETHNIC DIFFERENCE; EYE DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENOMIC INSTABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HEART DEVELOPMENT; HOMOLOGOUS RECOMBINATION; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; IMMUNE DEFICIENCY; IMMUNIZATION; IMMUNOGLOBULIN DEFICIENCY; IMMUNOTHERAPY; INCIDENCE; INTERMETHOD COMPARISON; KIDNEY DISEASE; LEARNING DISORDER; LYMPHOCYTE TRANSFUSION; MENTAL DISEASE; MORPHOGENESIS; MULTIPLEX POLYMERASE CHAIN REACTION; NASOGASTRIC TUBE; NOMENCLATURE; NOSE FEEDING; PALATOPHARYNGEAL INCOMPETENCE; PARATHYROID DISEASE; PARATHYROID HYPOPLASIA; PARATHYROID TRANSPLANTATION; PATHOGENESIS; PHARYNGEAL ARCHES DEVELOPMENT; PHENOTYPIC VARIATION; PREVALENCE; PSYCHOTHERAPY; REVIEW; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE; SPEECH DISORDER; SPEECH THERAPY; STOMACH TUBE; TBX1 GENE; THROAT SURGERY; THYMUS APLASIA; THYMUS TRANSPLANTATION;

EID: 84936935213     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S82105     Document Type: Review

References (71)

1. DiGeorge AM. Discussions on a new concept of the cellular basis of immunology. J Pediatr. 1965;67(5):907–908.
2. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443–1452.
3. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1–18.
4. Tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33(8):719.
5. Kimberley AM. FISH diagnosis of 22q11.2 deletion syndrome. Newborn Infant Nurs Rev. 2008;8:e11–e19.
6. Yu S, Graf WD, Shprintzen RJ. Genomic disorders on chromosome 22. Curr Opin Pediatr. 2012;24(6):665–671.
7. Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008;14(1):11–18.
8. Hurles M. How homologous recombination generates a mutable genome. Hum Genomics. 2005;2(3):179–186.
9. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008;1(1):4.
10. Dittwald P, Gambin T, Gonzaga-Jauregui C, et al. Inverted low-copy repeats and genome instability – a genome-wide analysis. Hum Mutat. 2013;34(1):210–220.
11. Pavlicek A, House R, Gentles AJ, Jurka J, Morrow BE. Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. Genome Res. 2005;15(11):1487–1495.
12. Cole CG, McCann OT, Collins JE, et al. Finishing the human chromosome 22 sequence. Genome Biol. 2008;9(5):R78.
13. Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013;92(3):439–447.
14. Gao S, Li X, Amendt BA. Understanding the role of TBX1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep. 2013; 13(6):613–621.
15. Scambler PJ. 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr Cardiol. 2010;31(3):378–390.
16. Gao S, Moreno M, Eliason S, et al. TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. Hum Mol Genet. 2015;24(8):2330–2348.
17. Rana MS, Théveniau-Ruissy M, De Bono C, et al. TBX1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart. Circ Res. 2014;115(9):790–799.
18. Castellanos R, Xie Q, Zheng D, Cvekl A, Morrow BE. Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat. PLoS One. 2014;9(5):e95151.
19. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000; 9(16):2421–2426.
20. Sinha T, Li D, Théveniau-Ruissy M, Hutson MR, Kelly RG, Wang J. Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome. Hum Mol Genet. 2015;24(6):1704–1716.
21. Karpinski BA, Maynard TM, Fralish MS, et al. Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech. 2014;7(2):245–257.
22. Meechan DW, Maynard TM, Tucker ES, LaMantia AS. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 2011;29(3):283–294.
23. Raux G, Bumsel E, Hecketsweiler B, et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet. 2007;16(1):83–91.
24. Marom T, Roth Y, Goldfarb A, Cinamon U. Head and neck manifestations of 22q11.2 deletion syndromes. Eur Arch Otorhinolaryngol. 2012;269(2):381–387.
25. Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA. Hematological abnormalities and 22q11.2 deletion syndrome. Rev Bras Hematol Hemoter. 2011;33(2):151–154.
26. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112(1 pt 1):101–107.
27. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35(9):789–790.
28. Vogels A, Schevenels S, Cayenberghs R, et al. Presenting symptoms in adults with the 22q11 deletion syndrome. Eur J Med Genet. 2014;57(4): 157–162.
29. Sandrin-Garcia P, Macedo C, Martelli LR, et al. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet. 2002;61(5):380–383.
30. Kitsiou-Tzeli S, Kolialexi A, Fryssira H, et al. Detection of 22q11.2 deletion among 139 patients with Di George/velocardiofacial syndrome features. In Vivo. 2004;18(5):603–608.
31. Bassett AS, McDonald-McGinn DM, Devriendt K, et al; International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2): 332–339.
32. Habel A, Herriot R, Kumararatne D, et al. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014;173(6):757–765.
33. Cancrini C, Puliafito P, Digilio MC, et al; Italian Network for Primary Immunodeficiencies. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr. 2014;164(6):1475–1480.
34. Noël AC, Pelluard F, Delezoide AL, et al. Fetal phenotype associated with the 22q11 deletion. Am J Med Genet A. 2014;16(11):2724–2731.
35. Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol. 2010;105(11):1617–1624.
36. Hacıhamdioğlu B, Berberoğlu M, Şıklar Z, et al. Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties. J Clin Res Pediatr Endocrinol. 2011;3(2):95–97.
37. Bertola G, Giambona S, Bianchi R, Girola A, Berra SA. Sindrome di Di George: una diagnosi non sempre pediatrica. [Di George syndrome: not always a pediatric diagnosis]. Recenti Prog Med. 2013; 104(2):69. Italian.
38. Lima K, Abrahamsen TG, Wolff AB, et al. Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome. Eur J Endocrinol. 2011;165(2):345–352.
39. Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11⋅2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190–196.
40. Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med. 2014;16(1): 40–44.
41. Matarazzo P, Tuli G, Fiore L, et al. Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism. J Pediatr Endocrinol Metab. 2014;27(1–2):53–59.
42. Tsirikos AI, Khan LA, McMaster MJ. Spinal deformity in patients with DiGeorge syndrome. J Spinal Disord Tech. 2010;23(3):208–214.
43. Maggadottir SM, Sullivan KE. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract. 2013;1(6):589–594.
44. Baker K, Vorstman JA. Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? Curr Opin Neurol. 2012;25(2): 131–137.
45. Demily C, Rossi M, Schneider M, et al. Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome. Encephale. Epub 2014 Dec 15.
46. Schneider M, Debbané M, Bassett AS, et al; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014;171(6): 627–639.
47. Persson C, Friman V, Óskarsdóttir S, Jönsson R. Speech and hearing in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012; 158(12):3071–3079.
48. Ruda JM, Krakovitz P, Rose AS. A review of the evaluation and management of velopharyngeal insufficiency in children. Otolaryngol Clin North Am. 2012;45(3):653–669.
49. Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci. 2012;69(1):17–27.
50. Björk AH, Óskarsdóttir S, Andersson BA, Friman V. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A(8):1934–1940.
51. Oskarsdóttir S, Holmberg E, Fasth A, Strömland K. Facial features in children with the 22q11 deletion syndrome. Acta Paediatr. 2008;97(8): 1113–1137.
52. Stagi S, Lapi E, Gambineri E, et al. Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). Clin Endocrinol (Oxf). 2010;72(6):839–844.
53. Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med. 2001;3(1):19–22.
54. Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS. Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol. 2008;131(1):51–58.
55. Butcher NJ, Kiehl TR, Hazrati LN, et al. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol. 2013;70(11):1359–1366.
56. Monteiro FP, Vieira TP, Sgardioli IC, et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013;172(7):927–945.
57. Fernández L, Lapunzina P, Arjona D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet. 2005;68(4):373–378.
58. Driscoll DA. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol Med. 2006;126:43–55.
59. Pretto D, Maar D, Yrigollen CM, Regan J, Tassone F. Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR. Clin Chem. 2015;61(1):182–190.
60. Horwitz MJ, Stewart AF. Hypoparathyroidism: is it time for replacement therapy? J Clin Endocrinol Metab. 2008;93(9):3307–3309.
61. Chinn IK, Markert ML. Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol. 2011;127(6):1351–1355.
62. Hofstetter AM, Jakob K, Klein NP, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133(4):946–954.
63. Sullivan KE, Jawad AF, Randall P, et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol. 1998;86(2):141–146.
64. Repetto GM, Guzmán ML, Delgado I, et al. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. BMJ Open. 2014;4(11):e005041.
65. Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008;14(1):35–42.
66. Leopold C, De Barros A, Cellier C, Drouin-Garraud V, Dehesdin D, Marie JP. Laryngeal abnormalities are frequent in the 22q11 deletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76(1):36–40.
67. Kirschner RE, Baylis AL. Surgical considerations in 22Q11.2 deletion syndrome. Clin Plast Surg. 2014;41(2):271–282.
68. Stransky C, Basta M, McDonald-McGinn DM, et al. Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction. Cleft Palate Craniofac J. 2015;52(2): 183–191.
69. Kennedy WP, Mudd PA, Maguire MA, et al. 22q11.2 Deletion syndrome and obstructive sleep apnea. Int J Pediatr Otorhinolaryngol. 2014;78(8): 1360–1364.
70. Tarquinio DC, Jones MC, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158(11):2672–2681.
71. Fung WL, Butcher NJ, Costain G, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. Epub 2015 Jan 8.