CHARGE syndrome: A case report of two new CDH7 gene mutations

Abstract

CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12). We present two new gene mutations in two patients with CHARGE syndrome, not previously reported in the scientific literature. Both of these patients clearly demonstrate the difference in the clinical expression of this syndrome, with patient 1 having a greater clinical severity compared to patient 2. We conclude that although in the scientific literature to date there is no clear correlation between a patient's genotype and phenotype expression, we can assume from the cases we present that a correlation does in fact exist. Specifically, missense mutations (as in case of patient 2) are associated with milder clinical expression, whereas mutations which result in truncation of the CDH7 protein (as in the case of patient 1 having a nonsense mutation) may be associated with a more severe clinical expression.

Keywords: CHARGE syndrome; choanal atresia; coloboma; heart defects; hypoplasia of the semicircular canals.