Oculodentodigital dysplasia (Oculodentodigital dysplasia) - GJA1.
The Oculodentodigital dysplasia is a disorder that affects many parts of the body, especially the eyes, teeth and fingers. Common features in people with this condition are microphthalmia and other ocular abnormalities that can lead to vision loss. Additional features may include dental anomalies (such as small teeth or absence of teeth), enamel weak, multiple cavities, dental early loss, thin nose, syndactyly, hypotrichosis, brittle nails, camptodactilia, microcephaly and cleft palate. In addition, some individuals have neurological problems such as ataxia, spasticity, dysarthria and hearing loss. A few people also have a skin disorder called palmoplantar keratoderma. Some characteristics of Oculodentodigital dysplasia are evident at birth, while others appear with age.
This disease is due to mutations in the gene GJA1, located on the long arm of chromosome 6 (6q22.31). This gene encodes a protein called connexin-43. This protein is part of gap junction channels, which allow direct communication between cells.
They have identified more than 45 mutations in the gene GJA1 in people with Oculodentodigital dysplasia. Mutations in the gene result encoding connexin-43 protein short and nonfunctional. Often abnormal proteins formed by channels are closed. Some mutations prevent connexin-43 protein reach the cell surface where it is needed to form channels between cells. A deterioration in the functioning of these channels interrupts intercellular communication, which probably interferes with normal cell growth and cell specialization.
Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means that a copy of the altered gene in each cell is sufficient to result in the alteration. In some cases, an affected person inherits the mutation from an affected parent. Other cases are caused by new mutations in the gene and occur in people with no history of disease in your family. Less often, oculodentodigital dysplasia can the inherited with an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with oculodentodigital dysplasia, by complete PCR amplification of the exons of the gene GJA1, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).