Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 290-293

  Lee, Y W ^a   Kim, S C ^b   Shin, S C ^b   Kim, J W ^a   Hong, H S ^b   Lee, Y K ^a   Ki, Chang Seok ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Soonchunhyang University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; CYSTEINE; DNA BINDING PROTEIN; GLYCINE; THREONINE; UNCLASSIFIED DRUG;

CASE REPORT; CHILD; CHOANA ATRESIA; CHROMOSOME 8Q; CLINICAL FEATURE; COLOBOMA; CONGENITAL HEART DISEASE; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HUMAN; KOREA; LETTER; MALE; NONSENSE MUTATION; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SYNDROME CHARGE; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; KOREA; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; SYNDROME;

EID: 60549086435     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01127.x     Document Type: Letter

References (12)

1. Pagon RA, Graham JM Jr, Zonana J et al. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981: 99: 223-227.
2. Sanlaville D, Verloes A. CHARGE syndrome: An update. Eur J Hum Genet 2007: 15: 389-399.
3. Vissers LE, van Ravenswaaij CM, Admiraal R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004: 36: 955-957.
4. Lalani SR, Safiullah AM, Fernbach SD et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006: 78: 303-314.
5. Jongmans MC, Admiraal RJ, van der Donk KP et al. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006: 43: 306-314.
6. Verloes A. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet A 2005: 133: 306-308.
7. Kosaki K, Udaka T, Okuyama T. DHPLC in clinical molecular diagnostic services. Mol Genet Metab 2005: 86: 117-123.
8. Sanlaville D, Etchevers HC, Gonzales M et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006: 43: 211-217.
9. Amiel J, Attiee-Bitach T, Marianowski R et al. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001: 99: 124-127.
10. Satar B, Mukherji SK, Telian SA. Congenital aplasia of the semicircular canals. Otol Neurotol 2003: 24: 437-446.
11. Brock KE, Mathiason MA, Rooney BL et al. Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies. Am J Med Genet A 2003: 123: 111-121.
12. Blake KD, Davenport SL, Hall BD et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998: 37: 159-173.