Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography

Genetic Testing

Volumn 10, Issue 4, 2006, Pages 244-251

  Aramaki, Michihiko ^a   Udaka, Toru ^a   Torii, Chiharu ^a   Samejima, Hazuki ^a   Kosaki, Rika ^b   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY   (Japan)

^b National Children Medical Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHD7 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC VALUE; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EAR DISEASES; EYE DISEASES; GENETIC SCREENING; HEART DEFECTS, CONGENITAL; HUMANS; NOSE DISEASES; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 33846696108     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.244     Document Type: Article

References (17)

1. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K (2006) Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 148:410-414.
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. Dehainault C, Lauge A, Caux-Moncoutier V, Pages-Berhouet S, Doz F, Desjardins L, Couturier J, Gauthier-Villars M, Stoppa-Lyonnet D, Houdayer C (2004) Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene. Nucleic Acids Res 32:e139.
4. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS (1991) 'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 19:4008.
5. Escary JL, Cecillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A (2000) Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. Hum Mutat 16:518-526.
6. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43:306-314.
7. Kosaki K, Udaka T, Okuyama T (2005) DHPLC in clinical molecular diagnostic services. Mol Genet Metab 86:117-123.
8. 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.
9. O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P (1998) Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52:44-49.
10. Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311-323.
11. Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211-317.
12. Schollen E, Dequeker E, McQuaid S, Vankeirsbilck B, Michils G, Harvey J, van den Akker E, van Schooten R, Clark Z, Schrooten S, Matthijs G, Group DC (2005) Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Hum Mutat 25:583-592.
13. Udaka T, Torii C, Takahashi D, Mod T, Aramaki M, Kosaki R, Tanigawara Y, Takahashi T, Kosaki K (2005) Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography. Genet Test 9:85-92.
14. Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T (2006) An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am J Med Genet (in press).
15. 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. Nature Genet 36:955-957.
16. Wagner T, Stoppa-Lyonnet D, Heischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P (1999) Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376.
17. Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: A review. Hum Mutat 17:439-474.