Bowen-Conradi Syndrome

Common Name(s)

Bowen-Conradi Syndrome

Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bowen-Conradi Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bowen-Conradi Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.
 

Author(s): Ahmed S Warda, Bernard Freytag, Sara Haag, Katherine E Sloan, Dirk Görlich, Markus T Bohnsack

Journal: Hum. Mol. Genet.. 2016 12;25(24):5353-5364.

 

Bowen-Conradi syndrome (BCS) is a severe genetic disorder that is characterised by various developmental abnormalities, bone marrow failure and early infant death. This disease is caused by a single mutation leading to the aspartate 86 to glycine (D86G) exchange in the essential nucleolar ...

Last Updated: 31 Dec 1969

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Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.
 

Author(s): Joy Armistead, Nehal Patel, Xiaoli Wu, Richard Hemming, Biswajit Chowdhury, Gagandeep Singh Basra, Marc R Del Bigio, Hao Ding, Barbara Triggs-Raine

Journal: Biochim. Biophys. Acta. 2015 May;1852(5):1029-37.

 

Bowen-Conradi syndrome (BCS) is a ribosomopathy characterized by severe developmental delay and growth failure that typically leads to death by one year of age. It is caused by a c.257A>G, p.D86G substitution in the ribosomal biogenesis protein, Essential for Mitotic Growth 1 (EMG1). ...

Last Updated: 31 Dec 1969

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The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.
 

Author(s): Britta Meyer, Jan Philip Wurm, Peter Kötter, Matthias S Leisegang, Valeska Schilling, Markus Buchhaupt, Martin Held, Ute Bahr, Michael Karas, Alexander Heckel, Markus T Bohnsack, Jens Wöhnert, Karl-Dieter Entian

Journal: Nucleic Acids Res.. 2011 Mar;39(4):1526-37.

 

The Nep1 (Emg1) SPOUT-class methyltransferase is an essential ribosome assembly factor and the human Bowen-Conradi syndrome (BCS) is caused by a specific Nep1(D86G) mutation. We recently showed in vitro that Methanocaldococcus jannaschii Nep1 is a sequence-specific pseudouridine-N1-methyltransferase. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bowen-Conradi Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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