Authors' objectives: CHARGE syndrome is a rare hereditary disorder characterized by Coloboma (key-hole slit causing deficient tissue in a structure) of the eyes, Heart defects, choanal Atresia (narrowing or blockage of the nasal airway), Retarded growth and development, Genital abnormalities, and Ear anomalies. CHARGE syndrome has broad and extremely variable expression and may also include cranial nerve and central nervous system anomalies involving olfaction (smell), facial changes, cleft lip and/or palate, tracheoesophageal fistula (abnormal connection between the trachea and esophagus), and hypogonadotropic hypogonadism (a lack of sex hormone production due to dysfunction of the pituitary or hypothalamus glands). CHARGE syndrome can be life-threatening in the neonatal period due to airway, feeding, and heart problems. Treatment typically requires multidisciplinary care involving many specialists. CHARGE syndrome is associated with sequence variants in the chromodomain helicase DNA binding protein 7 (CHD7) gene. Approximately 65% to 70% of patients suspected of having CHARGE syndrome have identifiable CHD7 variants. At least 1 patient with a clinical diagnosis of CHARGE syndrome has been described with a sequence variant in another gene, the sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E) gene; however, this appears to be a very rare cause of CHARGE syndrome. Sequence variants in CHD7 are inherited in an autosomal dominant fashion, meaning only 1 variant copy of CHD7 needs to be present in order to cause disease. However, most individuals with CHARGE syndrome are the first case in their family (i.e., the sequence variant occurred for the first time in the patient rather than being inherited from an affected parent). Although there is clinical overlap and, infrequently, an association between CHD7 variants and other conditions such as Kallman syndrome (KS) and the chromosome 22q11.2 deletion syndrome, the focus of this report will be CHARGE syndrome and its relationship to CHD7 variants.

Project Status: Completed

Year Published: 2014

URL for published report: Available for purchase: https://www.hayesinc.com/

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

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Contact Email: saleinfo@hayesinc.com

Copyright: 2014 Winifred S. Hayes, Inc