CHARGE Syndrome (CHD7, SEMA3E)
CHARGE syndrome is a well-described genetic condition affecting multiple body systems and more recently noted to be associated with immunodeficiency. This is recognized as the co-occurrence of anomalies including the eyes (coloboma), heart (congenital heart defects), choanal atresia, retardation of somatic and mental development, genitourinary anomalies, and ear anomalies (Pagon et al. 1981).
The majority of individuals with CHARGE syndrome are de novo. However, rarely familiar cases are described with autosomal dominant inheritance. Over 90% of individuals with typical CHARGE have a heterozygous pathogenic change in the gene CHD7 (Vissers et al. 2004), which encodes the chromodomain helicase DNA-binding protein 7. SEMA3E has also been reported as a causative gene in at least two affected persons (Lalani et al. 2004). This produces the protein semaphorin 3E. This is an autosomal dominant condition with most cases being sporadic.
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