Chromosome 22q11.2 deletion syndrome: Prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review

Gene

Volumn 527, Issue 1, 2013, Pages 405-409

  Chen, Chih Ping ^a,b,c,d,e   Huang, Jian Pei ^a,f   Chen, Yi Yung ^a   Chern, Schu Rern ^a   Wu, Peih Shan ^g   Su, Jun Wei ^a,h   Chen, Yu Ting ^a   Chen, Wen Lin ^a   Wang, Wayseen ^a,i  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b MACKAY MEDICAL COLLEGE   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^g GENE BIODESIGN CO LTD   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

22q11.2 deletion syndrome; ACGH; Conotruncal heart malformations; Prenatal diagnosis

Indexed keywords

AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME 22Q11.2 DELETION SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; FALLOT TETRALOGY; FETUS; FETUS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENOTYPE; HAPLOINSUFFICIENCY; HUMAN; MICROCEPHALY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PULMONARY ARTERY MALFORMATION;

22Q11.2 DELETION SYNDROME; ACGH; ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ASD; ATRIAL SEPTAL DEFECT; ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; CONOTRUNCAL HEART MALFORMATIONS; CTHM; DEL; DELETION; DGS; DIGEORGE SYNDROME; DORV; DOUBLE-OUTLET RIGHT VENTRICLE; FISH; FLUORESCENCE IN SITU HYBRIDIZATION; MLPA; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; PRENATAL DIAGNOSIS; TETRALOGY OF FALLOT; TOF; VCFS; VELOCARDIOFACIAL SYNDROME; VENTRICULAR SEPTAL DEFECT; VSD;

ABORTION, EUGENIC; AMNIOCENTESIS; AMNIOTIC FLUID; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; FEMALE; HUMANS; PREGNANCY;

EID: 84881258248     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.009     Document Type: Article

References (66)

1. Bassett A.S., et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J. Pediatr. 2011, 159:332-339.
2. Bretelle F., et al. Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Eur. J. Med. Genet. 2010, 53:367-370.
3. Chen C.-P., Chien S.-C. Prenatal sonographic features of 22q11.2 microdeletion syndrome. J. Med. Ultrasound 2008, 16:123-129.
4. Chen C.-P., Chern S.-R., Lee C.-C., Lin S.-P., Chang T.-Y., Wang W. Prenatal diagnosis of mosaic 22q11.2 microdeletion. Prenat. Diagn. 2004, 24:600-602.
5. Chen M., et al. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet. Gynecol. 2006, 28:939-943.
6. Chen C.-P., et al. 22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect by array comparative genomic hybridization. Taiwan. J. Obstet. Gynecol. 2009, 48:437-440.
7. Chen Y., et al. A novel mutation of GATA4 in a familial atrial septal defect. Clin. Chim. Acta 2010, 411:1741-1745.
8. Chen C.-P., et al. Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. Taiwan. J. Obstet. Gynecol. 2011, 50:85-94.
9. Chen C.-P., et al. Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes. Taiwan. J. Obstet. Gynecol. 2012, 51:93-99.
10. Chen C.-P., et al. Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester. Taiwan. J. Obstet. Gynecol. 2012, 51:481-484.
11. Chen Y.-Z., et al. Evidence for involvement of GNB1L in autism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012, 159B:61-71.
12. Chen C.-P., et al. Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2→q11.21). Taiwan. J. Obstet. Gynecol. 2013, 52:247-251.
13. Chen C.-P., et al. Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints. Gene 2013, 516:132-137.
14. Chen C.-P., et al. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. Gene 2013, 516:138-142.
15. Choudhry P., Trede N.S. DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. PLoS One 2013, 8:e58145.
16. De Luca A., et al. Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003, 116B:32-35.
17. De Luca A., et al. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin. Genet. 2011, 80:184-190.
18. Driscoll D.A., Budarf M.L., Emanuel B.S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 1992, 50:924-933.
19. Eldadah Z.A., et al. Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum. Mol. Genet. 2001, 10:163-169.
20. Funato N., Nakamura M., Richardson J.A., Srivastava D., Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum. Mol. Genet. 2012, 21:2524-2537.
21. Gogos J.A., et al. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:9991-9996.
22. Goldmuntz E., Geiger E., Benson D.W. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001, 104:2565-2568.
23. Goldmuntz E., Bamford R., Karkera J.D., dela Cruz J., Roessler E., Muenke M. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am. J. Hum. Genet. 2002, 70:776-780.
24. Guo T., et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum. Mutat. 2011, 32:1278-1289.
25. Gutierrez-Roelens I., et al. A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?. Eur. J. Hum. Genet. 2006, 14:1313-1316.
26. Heathcote K., et al. Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum. Mol. Genet. 2005, 14:585-593.
27. Herman S.B., et al. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am. J. Med. Genet. 2012, 158A:2781-2787.
28. Ira E., Zanoni M., Ruggeri M., Dazzan P., Tosato S. COMT, neuropsychological function and brain structure in schizophrenia: a systematic review and neurobiological interpretation. J. Psychiatry Neurosci. 2013, 38:120178.
29. Ishiguro H., et al. Supportive evidence for reduced expression of GNB1L in schizophrenia. Schizophr. Bull. 2010, 36:756-765.
30. Jensen T.J., Dzakula Z., Deciu C., van den Boom D., Ehrich M. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin. Chem. 2012, 58:1148-1151.
31. Karkera J.D., et al. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am. J. Hum. Genet. 2007, 81:987-994.
32. Kato Y., Habas R., Katsuyama Y., Naar A.M., He X. A component of the ARC/Mediator complex required for TGF-β/Nodal signalling. Nature 2002, 418:641-646.
33. Kodo K., et al. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:13933-13938.
34. Lee S.-G., et al. Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. Hum. Genet. 2005, 116:319-328.
35. Li Y., et al. Association study between GNB1L and three major mental disorders in Chinese Han populations. Psychiatry Res. 2011, 187:457-459.
36. Lin X., et al. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J. Hum. Genet. 2010, 55:662-667.
37. Liu T., et al. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study. Chin. Med. J. (Engl.) 2010, 123:438-442.
38. Lu F., Morrissette J.J.D., Spinner N.B. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am. J. Hum. Genet. 2003, 72:1065-1070.
39. Mademont-Soler I., et al. MLPA: a prenatal diagnostic tool for the study of congenital heart defects?. Gene 2012, 500:151-154.
40. Mademont-Soler I., et al. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. Ultrasound Obstet. Gynecol. 2013, 41:375-382.
41. Maitra M., Koenig S.N., Srivastava D., Garg V. Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr. Res. 2010, 68:281-285.
42. McDonald-McGinn D.M., Emanuel B.S., Zackai E.H. 22q11.2 deletion syndrome. GeneReviews™ [Internet] 2013, University of Washington, Seattle, Seattle (WA), (1993- Available at http://www.ncbi.nlm.nih.gov/books/NBK1523/ Update: Feb 28, Access: April 27, 2013). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
43. McElhinney D.B., Geiger E., Blinder J., Benson D.W., Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J. Am. Coll. Cardiol. 2003, 42:1650-1655.
44. Molesky M.G. Chromosome 22q11.2 microdeletion syndrome. Neonatal Netw. 2011, 30:304-311.
45. Moore J.W., Binder G.A., Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am. J. Obstet. Gynecol. 2004, 191:2068-2073.
46. Ota V.K., et al. The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia. J. Psychiatr. Res. 2010, 44:1113-1115.
47. Palmatier M.A., et al. COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Mol. Psychiatry 2004, 9:859-870.
48. Peng T., Wang L., Zhou S.-F., Li X. Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 2010, 138:1231-1240.
49. Pizutti A., et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum. Mol. Genet. 1997, 6:259-265.
50. Rauch R., et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J. Med. Genet. 2010, 47:321-331.
51. Sandhu H.K., Hollenbeck N., Wassink T.H., Philibert R.A. An association study of PCQAP polymorphisms and schizophrenia. Psychiatr. Genet. 2004, 14:169-172.
52. Scambler P.J. The 22q11 deletion syndromes. Hum. Mol. Genet. 2000, 9:2421-2426.
53. Scambler P.J., et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991, 10:201-206.
54. Schott J.-J., et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281:108-111.
55. Shifman S., et al. A highly significant association between a COMT haplotype and schizophrenia. Am. J. Hum. Genet. 2002, 71:1296-1302.
56. Shprintzen R.J., Goldberg R.B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981, 67:167-172.
57. Stallmeyer B., Fenge H., Nowak-Gottl U., Schulze-Bahr E. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin. Genet. 2010, 78:533-540.
58. Tan Z.-P., Huang C., Xu Z.-B., Yang J.-F., Yang Y.-F. Novel ZFPM2/FG2 variants in patients with double outlet right ventricle. Clin. Genet. 2012, 82:466-471.
59. van Beveren N.J.M., et al. Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome. PLoS One 2012, 7:e33473.
60. Vialard F., et al. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn. Ther. 2009, 25:277-284.
61. Vitelli F., Morishima M., Taddei I., Lindsay E.A., Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 2002, 11:915-922.
62. Vitelli F., Viola A., Morishima M., Pramparo T., Baldini A., Lindsay E. TBX1 is required for inner ear morphogenesis. Hum. Mol. Genet. 2003, 12:2041-2048.
63. Wang J., Xin Y.-F., Liu X.-Y., Liu Z.-M., Wang X.-Z., Yang Y.-Q. A novel NKX2-5 mutation in familial ventricular septal defect. Int. J. Mol. Med. 2011, 27:369-375.
64. Williams N.M., et al. Strong evidence that GNB1L is associated with schizophrenia. Hum. Mol. Genet. 2008, 17:555-566.
65. Xie L., et al. A family- and population-based study of the UFD1L gene for schizophrenia. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008, 147B:1076-1079.
66. Yu S., Graf W.D., Shprintzen R.J. Genomic disorders on chromosome 22. Curr. Opin. Pediatr. 2012, 24:665-671.