Renpenning syndrome 1

Common Name(s)

Renpenning syndrome 1

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.
 

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Condition Specific Organizations

Following organizations serve the condition "Renpenning syndrome 1" for support, advocacy or research.

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Scientific Literature

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The terms "Renpenning syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
 

Author(s): Claus Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R Frank Kooy, Herbert A Lubs, Roger E Stevenson, Juliane Ramser, Charles E Schwartz

Journal: Am. J. Hum. Genet.. 2004 Apr;74(4):777-80.

 

Last Updated: 16 Mar 2004

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