Velo-cardio-facial syndrome

Genetics of Developmental Disabilities

Volumn , Issue , 2005, Pages 383-417

  Kates, Wendy R ^a   Antshel, Kevin ^a   Fremont, Wanda ^a   Shprintzen, Robert J ^a   Roizen, Nancy ^a  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85056925165     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (85)

1. Shprintzen RJ. Velo-cardio-facial syndrome. In: Cassidy SB, Allanson J, eds. Management of Genetic Syndromes. New York: John Wiley & Sons, 2001: 495-517.
2. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 1992; 44: 261-268.
3. Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992; 339: 1138-1139.
4. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young DA. A new syndrome involving cleft palate, cardiac, anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate 1978; 15: 56-62.
5. Golding-Kushner KJ, Weller G, Shprintzen RJ. Velo-cardiofacial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol 1985; 5: 259-266.
6. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993; 45: 313-319.
7. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. Intelligence and psychosocial adjustment in velo-cardio-facial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997; 34: 453-458.
8. Moss E, Batshaw M, Solot C, Gerdes M, McDonald-McGinn D, Driscoll D, Emanuel B, Zackai E, Wang P. Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J Pediatr 1999; 134: 193-198.
9. Shprintzen RJ. Velocardiofacial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 2000; 6: 142-147.
10. Shprintzen R. Velo-cardio-facial syndrome. Otolaryngol Clin North Am 2000; 33: 1217-1240.
11. Swillen A, Devriendt K, Legius E, Prinzie P, Vogels A, Ghesquiere P, Fryns JP. The behavioural phenotype in velocardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns 1999; 10: 79-88.
12. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?Am J Psychiatry 1996; 153: 1541-1547.
13. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 1999; 56: 940-945.
14. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis. J Med Genet 1993; 30: 813-817.
15. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981; 67: 167-172.
16. Williams M, Shprintzen RJ, Goldberg RB. Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases. J Craniofac Genet Dev Biol 1985; 5: 175-180.
17. Strong WB. Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism. J Pediatr 1968; 73: 882-888.
18. Sedlačková E. The syndrome of the congenitally shortening of the soft palate. Cas Lek Ces 1955; 94: 1304-1307.
19. Kretschmer R, Say B, Brown D, Rosen FS. Congenital aplasia of the thymus gland (DiGeorge’s syndrome). N Engl J Med 1968; 279: 1295-1301.
20. Kaplan EN. The occult submucous cleft palate. Cleft Palate J 1975; 12: 356-368.
21. Sedlačková E. The syndrome of the congenitally shortened velum. The dual innervation of the soft palate. Folia Phoniatr 1967; 19: 441-450.
22. Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 1969; 44: 69-75.
23. Kinouchi A, Mori K, Ando M, Takao A. Facial appearance of patients with conotruncal anomalies. Pediatr Jpn 1976; 17: 84-87.
24. Takao A, Ando M, Cho K. Etiologic categorization of common congenital heart disease. In: Van Praagh R, Takao A, eds. Etiology and Morphogenesis of Congenital Heart Disease. Mount Kisco, NY: Futura, 1980: 253-369.
25. Momma K, Kondo C, Matsuoka A, Takao A. Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. Am J Cardiol 1996; 78: 591-594.
26. Fryburg JS, Lin YK, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 1996; 62: 274-275.
27. Daw SCM, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996; 13: 458-461.
28. Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O’Donnell H, Scambler P, Shprintzen R. Molecular definition of the 22q11 deletions in velo-cardiofacial syndrome. Am J Hum Genet 1995; 56: 1391-1403.
29. Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Genomics 1997; 46: 364-372.
30. Lachman HM, Morrow B, Shprintzen R, Veit S, Parsia SS, Faedda G, Goldberg R, Kucherlapati R, Papolos DF. Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velocardio-facial syndrome. Am J Med Genet 1996; 67: 468-472.
31. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001; 104: 619-629.
32. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999; 283: 1158-1161.
33. Graf WD, Unis AS, Yates CM, Sulzbacher S, Dinulos MB, Jack RM, Dugaw KA, Paddock MN, Parson WW. Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism. Neurology 2001; 57: 410-416.
34. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157-1167.
35. Mitnick R, Bello J, Shprintzen R. Brain anomalies in velocardio-facial syndrome. Am J Med Genet 1994; 54: 100-106.
36. Chow EW, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biol Psychiatry 1999; 46: 1436-1442.
37. Eliez S, Schmitt JE, White CD, Reiss AL. Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am J Psychiatry 2000; 157: 409-415.
38. KatesW, Burnette C, Jabs E, Rutberg J, Murphy A, Grados M, Geraghty M, Kaufmann W, Pearlson G. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol Psychiatry 2001; 49: 677-685.
39. Eliez S, Schmitt J, White C, Wellis V, Reiss AL. A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiatry 2001; 49: 540-546.
40. Van Amelsvoort T, Daly E, Robertson D, Suckling J, Ng V, Critchley H, Owen MJ, Henry J, Murphy KC, Murphy DGM. Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Br J Psychiatry 2001; 178: 412-419.
41. Eliez S, Barnea-Goraly N, Schmitt JE, Liu Y, Reiss AL. Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). Biol Psychiatry 2002; 52: 68-70.
42. Sugama S, Bingham PM, Wang PP, Moss EM, Kobayashi H, Eto Y. Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome (del 22q11.2). Acta Paediatr 2000; 89: 546-549.
43. Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol 2004; 19(5): 337-342.
44. Chow EW, Zipursky RB, Mikulis DJ, Bassett AS. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry 2002; 51: 208-215.
45. Mega MS, Cummings JL. Frontal-subcortical circuits and neuropsychiatric disorders. J Neuropsychiatry Clin Neurosci 1994; 6: 358-370.
46. Alexander GE, DeLong MR, Strick PL. Parallel organization of functionally segregated circuits linking basal ganglia and cortex. Ann Rev Neurosci 1986; 9: 357-381.
47. Middleton FA, Strick PL. Basal ganglia and cerebellar loops: motor and cognitive circuits. Brain Res Rev 2000; 31: 236-250.
48. Cummings JL. Frontal-subcortical circuits and human behavior. Arch Neurol 1993; 50: 873-880.
49. Feinstein C, Eliez S, Blasey C, Reiss AL. Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 2002; 15: 312-318.
50. Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet (Neuropsychiatr Genet) 2001; 105: 354-362.
51. Vogels A, Verhoeven WMA, Tuinier S, DeVriendt K, Swillen A, Curfs LMG, Frijns JP. The psychopathological phenotype of velo-cardio-facial syndrome. Annal de Genet 2002; 45: 89-95.
52. Pearlson G, Petty R, Ross C, Tien A. Schizophrenia: a disease of heteromodal association cortex? Neuropsychopharmacology 1996; 14: 1-17.
53. Mesulam M. A cortical network for directed attention and unilateral neglect. Arch Neurol 1981; 10: 304-325.
54. Goldman-Rakic P. Higher functions of the brain. In: Plum F, Mountcastle V, eds. The Handbook of Physiology. Vol. V. Bethesda, MD: American Physiological Society, 1987: 373-417.
55. Eliez S, Blasey CM, Menon V, White CD, Schmitt JE, Reiss AL. Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet Med 2001; 3: 49-55.
56. Eliez S, Blasey C, Schmitt E, White C, Hu D, Reiss A. Velocardio-facial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry. 2001; 158: 447-453.
57. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798-804.
58. Swillen A, Vandeputte L, Cracco J, Maes B, Ghesquiere P, Devriendt K, Fryns J. Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Neuropsychol Dev Cogn Sect C Child Neuropsychol 1999; 5: 230-241.
59. Gilger J. Differential assortative mating found for academic and demographic variables as a function of time of assessment. Behav Genet 1991; 21: 131-150.
60. Scherer NJ, D’Antonio LL, Kalbfleisch JE. Early speech and language development in children with velocardiofacial syndrome. Am J Med Genet 1999; 88: 714-723.
61. Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham EJ. Velo-cardio-facial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet 1991; 28: 596-604.
62. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10: 11-24.
63. Simon TJ, Bearden CE, Moss EM, McDonald-McGinn D, Kackai E, Wang PP. Cognitive development in VCFS. Prog Ped Cardiol 2002; 15: 109-117.
64. Glaser B, Mumme DL, Blasey C, Morris MA, Dahoun SP, Antonarakis SE, Reiss AL, Eliez S. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr 2002; 140: 753-758.
65. Rourke BP. Nonverbal Learning Disabilities: The Syndrome and the Model. New York: Guilford Press, 1989.
66. Warrington EK, James M. Visual apperceptive agnosia: a clinico-anatomical study of three cases. Cortex 1988; 24: 13-32.
67. Wang PP, Woodin MF, Kreps-Falk R, Moss EM. Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol 2000; 42: 422-427.
68. Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ III, Driscoll DA, Jawad A, Emanuel BS, McDonald-McGinn DM, Batshaw ML, Zackai EH. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 1999; 85: 127-133.
69. Einfeld SL, Tonge BJ. Population prevalence of psychopathology in children and adolescents with intellectual disability: II. Epidemiological findings. J Intellect Disabil Res 1996; 40: 99-109.
70. Woodin M, Wang P, Bearden C, McDonald-McGinn D, Zakai E, Emanuel B. Attention, working memory and executive functions in children and adolescents with velocardiofacial syndrome: patterns, profiles, and presentation. Neuropsych Soc 2000; 6: 160.
71. McCandless S, Scott J, Robin N. Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders. Arch Pediatr Adolesc Med 1998; 152: 481-484.
72. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994; 182: 476-478.
73. KarayiorgouM, Morris M, Morrow B, Shprintzen R, GoldbergR, Borrow J, Gos A, NestadtG, Wolyniec P, Lasseter V. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 1995; 92: 7612-7616.
74. Beitchman J, Nair R, Clegg M, Ferguson B, Patel P. Prevalence of psychiatric disorders in children with speech and language disorders. J Am Acad Child Psychiatry 1986; 25: 528-535.
75. Beitchman J, Young A. Learning disorders with a special emphasis on reading disorders: a review of the past 10 years. J Am Acad Child Adolesc Psychiatry 1997; 36: 1020-1032.
76. Feinstein C, Reiss A. Psychiatric disorders in mentally retarded children and adolescents. Child Adolesc Psychiatr Clin N Am 1996; 5: 827-852.
77. Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B. Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet 1997; 60: 851-859.
78. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 1992; 42: 141-142.
79. Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 1999; 46: 882-891.
80. Hans SL, Marcus J, Nuechterlein KH, Asarnow RF, Styr B, Auerbach JG. Neurobehavioral deficits at adolescence in children at risk for schizophrenia: the Jerusalem Infant Development Study. Arch Gen Psychiatry 1999; 56: 741-748.
81. Karayiorgou M, Altemus M, Galke B, Goldman D, Murphy D, Ott J, Gogos J. Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci USA 1997; 94: 4572-4575.
82. Papolos D, Veit S, Faedda G, Saito T, Lachman H. Ultra-ultra rapid cycling bipolar disorder is associated with the low activity atecholamine-O-methyltransferase allele. Mol Psychiatry 1998; 3: 346-349.
83. Egan M, Goldberg T, Gscheidle T, Weirich M, Rawlings R, Hyde T, Bigelow L, Weinberger D. Relative risk for cognitive impairments in siblings of patients with schizophrenia. Biol Psychiatry 2001; 50: 98-107.
84. Akil M, Kolachana B, Rothmond D, Hyde T, Weinberger D, Kleinman J. Catechol-O-methyltransferase genotype and dopamine regulation in the human brain. J Neurosci 2003; 23: 2008-2013.
85. Dunham I, Collins J, Wadey R, Scambler P. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 1992; 340: 1361-1362.