The CHARGE Syndrome

628 Words Jan 26th, 2018 3 Pages
The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

CHARGE syndrome is a genetic condition believed to be the result of a sporadic heterozygous mutation in the CHD7 gene. Experiments to determine the precise mutations within the CHD7 gene have concluded that mutations are scattered throughout the gene and include nonsense, frameshift and missense mutations as well as intragenic deletions (Martínez-Quintana et al., 2014). Intragenic deletions were initially reported in 2004 by a team who optimized array comparative genome hybridization (CGH) for high-resolution genome-wide screening of copy-number variations. Array CGH has since become a valuable, genome-wide screening tool for the detection of chromosomal aberrations in the form of copy number imbalances. By utilizing array CGH in two individuals with CHARGE syndrome, the team was able to report a 2.3 Mb de novo overlapping microdeletion on chromosome 8q12 (Vissers et al.,…

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