Dominant CHARGE association.
We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The proband's maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The proband's maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D003025:Clubfoot / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005799:Genes, Dominant; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D010375:Pedigree