Bowen-Conradi syndrome
Definition:
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.
References:
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[1]. Emily F Freed, et al. When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst. 2010 Mar;6(3):481-93. [Content Brief]
[2]. Joy Armistead, et al. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet. 2009 Jun;84(6):728-39. [Content Brief]
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