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Background  Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in  SCARB2 . We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy.  To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote  SCARB2  mutations, we screened for  SCARB2  mutations in unrelated patients showing isolated AMRF features.    Methods  In the AMRF family all exons of  SCARB2  were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the  SCARB2  exons.    Results  A novel homozygous 1 bp deletion (c.111delC) in  SCARB2  was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a  SCARB2  frameshift mutation (c.666delCCTTA).    Conclusions  Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous  SCARB2  mutations may be associated with PNP features.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features