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Renpenning syndrome 1
Other Names for this Disease
- Mental retardation, X-linked Renpenning type
- Mental retardation, X-linked, syndromic 8
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Renpenning syndrome is an inherited X-linked mental retardation condition which most often presents in males. It is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit. Renpenning syndrome is caused by mutations in the polyglutamine tract binding protein 1 gene (PQBP1). Treatment is symptomatic and supportive. In 2005, it was proposed that the various X-linked mental retardation syndromes with PQBP1 mutations be combined under the name of Renpenning syndrome.
- Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Am J Med Genet A. 2005. http://www.ncbi.nlm.nih.gov/pubmed/15782410. Accessed August 19, 2009.
- Renpenning syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242. Accessed August 19, 2009.
- Renpenning Syndrome 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309500. Accessed August 19, 2009.
- Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Am J Hum Genet. 2004. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15024694. Accessed August 19, 2009.
- Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Am J Hum Genet. 1998. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=9545405. Accessed August 19, 2009.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Renpenning syndrome 1. Click on the link to go to OMIM and review these resources.