Renpenning syndrome

Definition:

Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.

References:

[1]. Claus Lenski, et al. 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. Am J Hum Genet. 2004 Apr;74(4):777-80. [Content Brief]

[2]. Roger E Stevenson, et al. Renpenning syndrome comes into focus. Am J Med Genet A. 2005 May 1;134(4):415-21. [Content Brief]

[3]. Xiao-Yan Zhang, et al. Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. Hum Mol Genet. 2017 Mar 1;26(5):955-968. [Content Brief]

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