CHARGE syndrome is a constellation
of congenital malformations. The name of the condition
is an acronym of some of the
most common features:
C = Coloboma of the eye and Cranial
H = Heart malformation,
A = Choanal Atresia (blockage of the nasal passageways),
R = Retardation of growth after birth
and Retardation of development,
G = Genital hypoplasia (underdevelopment) in males
and urinary tract malformations,
E = Ear malformations and/or deafness.
In addition, there may be cleft lip or palate;
small chin; facial palsy; and esophageal atresia.
Other problems reported in children with CHARGE syndrome
include abnormally small head,
drooping of the eyelids, trouble breathing (due to
the choanal atresia), feeding problems in infancy, omphalocele,
anal stenosis or blockage, and
deficiency of growth hormone. Children with CHARGE
syndrome may die in the newborn period or later in
childhood. Children who survive usually show some degree
of mental deficiency. The range of the mental handicap
Most children with CHARGE syndrome have no family
history of the disorder.Very few people with CHARGE will have 100% of its known features.
Mutations on the CHD7 gene (located on Chromosome 8) have been identified in patients with CHARGE syndrome. CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code Q89.8
Test Requisition: Sequencing Requisition
CPT Code: 81407 Cost: $1870.00
Turn-around-time: 5-6 weeks
1. Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association". J. Pediatr. 99 (2): 223–7.
2. Hall BD (1979). "Choanal atresia and associated multiple anomalies". J. Pediatr. 95 (3): 395–8.
3. Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M., et al. (2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.". Nature Genetics 36 (9): 955–957.
4. Zentner GE, Layman WS, Martin DM, Scacheri PC (2010). "Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome". Am J Med Genet A 152 (3): 674–686.
5. Janssen, N; Bergman, JE; Swertz, MA; Tranebjaerg, L; Lodahl, M; Schoots, J; Hofstra, RM; van Ravenswaaij-Arts, CM; Hoefsloot, LH (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome.". Human mutation 33 (8): 1149–1160.