Bowen-Conradi syndrome is a lethal autosomal recessive disorder affecting Hutterite infants, characterized by severe growth and psychomotor retardation, and leading to death at an average age of thirteen months. Linkage analysis and sequencing identified an A>G mutation in EMG1 as the probable cause of the disease. This gene is implicated in ribosome biogenesis, and the mutation results in an unstable EMG1 protein. The reduction in available EMG1 causes a transient delay in processing of the ribosomal small subunit 18S rRNA, leading to cell cycle delay at G2/M and a subsequent reduction in cell proliferation rates in patient lymphoblasts. A mouse model of Bowen-Conradi syndrome also displayed severe developmental delay, with prominent effects in the cranial central nervous system. Embryos died prematurely during development, probably due to decreased proliferation rates accompanied by apoptosis. These results shed light on the etiology of Bowen-Conradi syndrome, and open the door for development of treatments.
| Identifer | oai:union.ndltd.org:MANITOBA/oai:mspace.lib.umanitoba.ca:1993/23413 |
| Date | January 2013 |
| Creators | Armistead, D. Joy |
| Contributors | Triggs-Raine, Barbara (Biochemistry and Medical Genetics), Duckworth, Mary Lynn (Physiology) Rockman-Greenberg, Cheryl (Pediatrics and Child Health) Ding, Hao (Biochemistry and Medical Genetics) Rommens, Johanna (University of Toronto) |
| Publisher | The American Society of Human Genetics, Nova Science Publishers |
| Source Sets | University of Manitoba Canada |
| Detected Language | English |
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