Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2

Molecular and Cellular Biochemistry

Volumn 303, Issue 1-2, 2007, Pages 9-17

  Sandrin Garcia, Paula ^a   Abramides, Dagma V M ^a   Martelli, Lúcia R ^a   Ramos, Ester S ^a   Richieri Costa, Antônio ^a   Passos, Geraldo A S ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Faculty of Dentistry   (Brazil)

Author keywords

22q11.2 deletion; Genotyping analysis; Microdeletion syndrome; Parental analysis; Velocardiofacial syndrome

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DNA EXTRACTION; FAMILY STUDY; FEMALE; GENOTYPE; HAPLOTYPE; HEMIZYGOSITY; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; SHORT TANDEM REPEAT; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; DIGEORGE SYNDROME; DNA; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 34547923174     PISSN: 03008177     EISSN: 15734919     Source Type: Journal    
DOI: 10.1007/s11010-007-9450-5     Document Type: Article

References (32)

1. Scambler PJ (2000) The 22q11 deletion syndromes. Hum Mol Genet 9:2421-2426
2. McDonald-McGinn DM, Larossa D, Goldmuntz E et al (1997) The 22q11.2 deletion: Screening, diagnostic workup, and outcRme of results: report on 181 patients. Genet Test 1:99-108
3. Shprintzen RJ (2000) Velo-cardio-facial syndrome: A distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 6:142-147
4. Digilio MC, Angioni A, De Santis M et al (2003) Spectrum of clinical variability in familial deletion 22q11.2 from full manifestation to extremely mild clinical anomalies. Clin Genet 63:308-313
5. Sandrin-Garcia P, Macedo C, Martelli LR et al (2002) Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380-383
6. Adeyinca A, Stockero KJ, Flynn HC et al (2004) Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb. Genet Med 6:517-520
7. Morrow B, Goldberg R, Carlson C et al (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391-1403
8. Carlson C, Papolos D, Pandita RK et al (1997) Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet 60:851-859
9. Carlson C, Sirotikin H, Pandita R et al (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61:620-629
10. Edelman L, Pandita RK, Morrow BE (1999) Low-copy repeats mediate the common 3 Mb deletion in patients with velocardiofacial syndrome. Am J Hum Genet 60:1076-1086
11. Shaikh TH, Kurahashi H, Saitta SC et al (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501
12. Shprintzen RJ, Goldberg R, Lewin ML et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical face, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J 15:56-62
13. Emanuel BS, McDonald-McGinn D, Saitta SC et al (2001) The 22q11.2 deletion syndrome. Adv Pediatr 48:39-73
14. Shprintzen RJ, Goldberg R, Young D et al (1981) The velo-cardio-facial syndrome: A clinical and genetics analysis. Pediatrics 67:167-172
15. Lipson HA, Yuille D, Angel M et al (1991) Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognize. J Med Genet 28:596-604
16. Sandrin-Garcia P, Richieri-Costa A, Tajara EH et al (2007) Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies. Genet Mol Biol 30:21-24
17. Sugama S, Namihira T, Matsuoka R et al (1999) Psychiatric in patients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry 67:803-806
18. McDonald-McGinn DM, Kirschner R, Goldmuntz E et al (1999) The Philadelphia stoRy: The 22q11.2 deletion: report on 250 patients. Genet Couns 10:11-24
19. McDonald-McGinn DM, Tonnessen MK, Laufer-Cahana A et al (2001) Phenotype of 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! Genet Med 31:23-29
20. Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804
21. Demczuk S, Levy A, Aubry M et al (1995) Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes: A study of 22 new patients and review of the literature. Hum Genet 96:9-13
22. Saitta SC, Driscoll DA, Rappaport EF et al (2000) The 22q11.2 deletion: parental origin and meiotic mechanism. Am J Hum Genet 67:163S
23. Vogels A, Fryns JP (2002) The velocardiofacial syndrome: A review. Genet Couns 13:105-113
24. Gottlieb S, Emanuel BS, Driscoll DA et al (1997) The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Am J Hum Genet 60:1194-1201
25. Pizutti A, Novelli G, Ratti A et al (1997) UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 6:259-265
26. Yamagishi H, Garg V, Matsuoka R et al (1999) A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283:1158-1161
27. Halford S, Wilson D, Daw S et al (1993) Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet 2:1577-1582
28. Merscher S, Funke B, Epstein JA et al (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104:619-629
29. Liao J, Kochilas L, Nowotschin S et al (2004) Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13:1577-1585
30. Paylor R, Glaser B, Mupo A et al (2006) Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome. Proc Nat Acad Sci 103:7729-7734
31. Dunham I, Collins J, Wadey R et al (1992) Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 340:1361-1362
32. Baker K, Baldeweg T, Sivagnanasundaram S et al (2005) COMT val108/158met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol Psychiat 58:23-31