ClinVar

In 3 members of a Finnish family with CHARGE syndrome (214800), Vuorela et al. (2008) identified a 4795C-T transition in exon 21 of the CHD7 gene, resulting in a gln1599-to-ter (Q1599X) substitution. The male infant proband and a male fetus from a second pregnancy both had absence of the olfactory bulbs in addition to other features consistent with CHARGE syndrome. The male infant, who died at 3 months of age, also had marked isomerism of the liver with significant symmetry of the right side-appearing lobes and a midline gallbladder, as well as extrahepatic bile duct obstruction and significant hyporotation of the intestines. Their father, in whom the mutation was found in peripheral blood lymphocytes and in buccal cells, had minimal findings, with left-sided conductive hearing loss, a dysplastic, cup-shaped right external ear, slightly asymmetric face, and nonspecific degenerative retinal lesion of the right eye. The father's parents and brother did not carry the mutation, suggesting the mutation occurred de novo in the father, and his brother also had mild asymmetric hearing loss and a mildly dysplastic left external ear.