Bowen-Conradi syndrome ... (Bowen-Conradi syndrome) - Gen EMG1.
The Bowen-Conradi syndrome is a disorder that affects many parts of the body and is generally fatal in childhood. Affected individuals have low birth weight, feeding problems and slow growth. Signs and symptoms associated with this disease may include microcephaly, dolichocephaly, prominent nose high bridge, micrognathia, clinodactilia the fifth finger or camptodactilia, and limited joint movement. Other features that develop in some affected individuals include seizures, structural abnormalities of the kidneys, heart, brain or other organs, cleft lip with or without cleft palate, hypospadias or cryptorchidism and in affected males. Newborns with Bowen-Conradi syndrome of not reaching developmental milestones such as smiling or sit and usually do not survive more than 6 months.
This process is due to mutations in the EMG1 gene, located on the short arm of chromosome 12 (12p13.3). This gene encodes a protein that is involved in ribosome production, processing genetic instructions cell to create new proteins. The EMG1 protein is involved in the configuration of a part of ribosomes called small subunit (SSU). In this function, the EMG1 protein acts as part of a protein complex called procesoma SSU. In addition to helping form the SSU, the SSU procesoma complex is involved in the maturation of the 18S rRNA molecule.
EMG1 common genetic mutation in the Hutterite US and Canadian population leads to Bowen-Conradi syndrome of. This mutation, Asp86Gly or D86G, aspartic acid replaces the amino acid by the amino acid glycine at position 86 in the EMG1 protein, which leads to an unstable protein and a decrease in the amount of protein that is available EMG1 in the nucleolus. A deficiency of this protein in the nucleolus could endanger ribosome production, which can reduce growth and cell proliferation. However, it is unclear how mutations in the gene lead to EMG1 particular signs and symptoms of Bowen-Conradi syndrome.
This disease is inherited in an autosomal recessive pattern, that is, 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 Bowen-Conradi of syndrome by complete PCR amplification of exons EMG1 gene, 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).