Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

American Journal of Human Genetics

Volumn 78, Issue 2, 2006, Pages 303-314

  Lalani, Seema R ^a   Safiullah, Arsalan M ^a   Fernbach, Susan D ^a   Harutyunyan, Karine C ^a   Thaller, Christina ^a   Peterson, Leif E ^a   McPherson, John D ^a   Gibbs, Richard A ^a   White, Lisa D ^a   Hefner, Margaret ^b   Davenport, Sandra L H ^c   Graham Jr , John M ^d   Bacino, Carlos A ^a   Glass, Nancy L ^a   Towbin, Jeffrey A ^a   Craigen, William J ^a   Neish, Steven R ^a   Lin, Angela E ^e   Belmont, John W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Sensory Genetics/Neuro Development   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; PROTEIN CHD7; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; BRAIN; BRANCHIAL ARCH; CARDIOVASCULAR MALFORMATION; CHD7 GENE; CHOANA ATRESIA; COLOBOMA; CONTROLLED STUDY; CORRELATION ANALYSIS; CRANIAL NERVE PARALYSIS; EAR MALFORMATION; EMBRYO; EXON; FACE MALFORMATION; FACIOACOUSTIC PREGANGLION COMPLEX; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HEARING LOSS; HEART; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLFACTORY SYSTEM; OPTIC DISK; OPTIC VESICLE; PHENOTYPE; PREGANGLIONIC NERVE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SYNDROME CHARGE; UNINDEXED SEQUENCE; UROGENITAL TRACT MALFORMATION;

ANIMALIA;

EID: 31544463054     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/500273     Document Type: Article

References (36)

1. Amiel J, Attiee-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S (2001) Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 99:124-127
2. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr (1998) CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 37: 159-173
3. Blake KD, Ratcliffe JM, Wyse RK (1989) CHARGE association in two monozygous triplets. Int J Cardiol 25:339-341
4. Brehm A, Tufteland KR, Aasland R, Becker PB (2004) The many colours of chromodomains. Bioessays 26:133-140
5. Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L (1991) Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet 41:246-250
6. De Krijger RR, Mooy CM, Van Hemel JO, Sulkers EJ, Kros JM, Bartelings MM, Govaerts LC (1999) CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3). Pediatr Dev Pathol 2:577-581
7. Devriendt K, Swillen A, Fryns JP (1998) Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 53: 408-410
8. Feng Q, Zhang Y (2001) The MeCP1 complex represses transcription through preferential binding, remodeling, and deacetylating methylated nucleosomes. Genes Dev 15:827-832
9. Graham JM Jr (2001) A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet 99:120-123
10. Hall BD (1979) Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398
11. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ (1979) Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-a syndrome. J Pediatr Ophthalmol Strabismus 16:122-128
12. Irizarry RA, Bolstad BM, Collin F, Cope LM, Hobbs B, Speed TP (2003a) Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res 31:e15
13. Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, Scherf U, Speed TP (2003b) Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4:249-264
14. Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD (2005) An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 133:309-317
15. Kaufman MH (1992) The Atlas of mouse development. University of Edinburgh, Edinburgh, United Kingdom
16. Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW (2005) SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet 6:8
17. Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW (2004) SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 41:e94
18. Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW (2003) Toward a genetic etiology of CHARGE syndrome. I. A systematic scan for submicroscopic deletions. Am J Med Genet A 118:260-266
19. Lee WT, Hou JW, Yau KI, Wang TR (1995) Trisomy 18 in a patient with CHARGE association. J Formosan Med Assoc 94:60-62
20. Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstien S, Katzin N, Lerman-Sagie T (2000) CHARGE association in a child with de novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping. J Med Genet 37:E47
21. Lubinsky MS (1994) Properties of associations: identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 49:21-25
22. Mitchell JA, Giangiacomo J, Hefner MA, Thelin JW, Pickens JM (1985) Dominant CHARGE association. Ophthalmic Paediatr Genet 6:271-276
23. North KN, Wu BL, Cao BN, Whiteman DA, Korf BR (1995) CHARGE association in a child with de novo inverted duplication (14) (q22→q24.3). Am J Med Genet 57:610-614
24. Pagon RA, Graham JM Jr, Zonana J, Yong SL (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227
25. Pray-Grant MG, Daniel JA, Schieltz D, Yates JR 3rd, Grant PA (2005) Chd1 chromodomain links histone H3 methylation with SAGA- and SLIK-dependent acetylation. Nature 433:434-438
26. Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M (2002) A CGH study of 27 patients with CHARGE association. Clin Genet 61:135-138
27. Storey JD, Tibshirani R (2003) Statistical significance for genomewide studies. Proc Natl Acad Sci USA 100:9440-9445
28. Studer M (2001) Initiation of facial motoneurone migration is dependent on rhombomeres 5 and 6. Development 128:3707-3716
29. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S (1998) CHARGE syndrome: report of 47 cases and review. Am J Med Genet 76:402-409
30. Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A (1996) Increased paternal age in CHARGE association. Clin Genet 50:548-550
31. Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (1998) Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex. Nature 395:917-921
32. Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 133:306-308
33. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957
34. Wilkinson DG (1992) In situ hybridization: a practical approach. Oxford University Press, London
35. Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (1997) Characterization of the CHD family of proteins. Proc Natl Acad Sci USA 94:11472-11477
36. Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A, Reinberg D (1999) Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation. Genes Dev 13:1924-1935