Microarray analysis unmasked two siblings with pure heredita(5)

Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region onchromosome 3q28–q29

W.Yuetal./JournaloftheNeurologicalSciences359(2015)351–355355

severeataxiabehavior[20,21],andFGF12mightberelatedtoHSPinhuman;theubiquitinligaseF-boxprotein45(FBXO45)iscriticalforsyn-aptogenesis,synaptictransmissionandneuronalmigrationindevelop-ingcentralandperipheralneurons[22].RecentresearchsuggestedthatFBXO45mightbeacandidategeneforschizophreniaandcerebralpalsy[23,24].Therefore,furtheranalysisofnon-codingregions,intronicandmRNAexpressionofthegenesinthecriticalROHregionneedtobeconductedtoidentifythegenesresponsibleforSPG14.

Inconclusion,weidenti edthe rstpureformofHSPinaChinesenon-consanguineousfamilywitha7.7MbROHonchromosome3q28–q29whichpartiallyoverlappedthelocusofSPG14.TheseresultssuggestedthatthesharedROHregiondetectedinourpatientshelpedtocon rmthecandidateregionon3qterassociatedwithSPG14.

Supplementarydatatothisarticlecanbefoundonlineat/10.1016/j.jns.2015.10.057.Con ictofinterest

Theauthorsdeclarenocon ictsofinterest.Acknowledgments

Theauthorsaregratefultoallthepeoplewhoprovidedhelpforthisstudy.ThisworkwassupportedbythegrantsfromtheNationalBasicResearchProgramofChina,(2013CB945402,2013CB945403).References

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