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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
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نویسنده
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brewer m.h. ,chaudhry r. ,qi j. ,kidambi a. ,drew a.p. ,menezes m.p. ,ryan m.m. ,farrar m.a. ,mowat d. ,subramanian g.m. ,young h.k. ,zuchner s. ,reddel s.w. ,nicholson g.a. ,kennerson m.l.
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منبع
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plos genetics - 2016 - دوره : 12 - شماره : 7
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چکیده
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With the advent of whole exome sequencing,cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. in two large,distantly-related families that mapped to the charcot-marie-tooth neuropathy cmtx3 locus at chromosome xq26.3-q27.3,all coding mutations were excluded. using whole genome sequencing we found a large dna interchromosomal insertion within the cmtx3 locus. the 78 kb insertion originates from chromosome 8q24.3,segregates fully with the disease in the two families,and is absent from the general population as well as 627 neurologically normal chromosomes from in-house controls. large insertions into chromosome xq27.1 are known to cause a range of diseases and this is the first neuropathy phenotype caused by an interchromosomal insertion at this locus. the cmtx3 insertion represents an understudied pathogenic structural variation mechanism for inherited peripheral neuropathies. our finding highlights the importance of considering all structural variation types when studying unsolved inherited peripheral neuropathy cases with no pathogenic coding mutations. © 2016 brewer et al.
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آدرس
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northcott neuroscience laboratory,anzac research institute,concord,nsw,australia,sydney medical school,university of sydney,camperdown,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw,australia,sydney medical school,university of sydney,camperdown,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw,australia,discipline of pathology,university of sydney,camperdown,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw, Australia, the institute for neuroscience and muscle research,the children’s hospital at westmead,westmead,nsw,australia,t.y. nelson department of neurology and neurosurgery,the children’s hospital at westmead,westmead,nsw,australia,paediatrics and child health,university of sydney,camperdown,nsw, Australia, department of neurology,royal children’s hospital,parkville,vic,australia,murdoch childrens research institute,parkville,vic,australia,department of paediatrics,university of melbourne,parkville,vic, Australia, department of neurology,sydney children’s hospital,randwick,nsw,australia,school of women’s and children’s health,unsw medicine,university of new south wales,kensington,nsw, Australia, school of women’s and children’s health,unsw medicine,university of new south wales,kensington,nsw,australia,department of medical genetics,sydney children’s hospital,randwick,nsw, Australia, department of paediatrics,john hunter children’s hospital,newcastle,nsw, Australia, department of paediatrics,royal north shore hospital,st leonards,nsw,australia,northern clinical school,sydney medical school,university of sydney,st leonards,nsw,australia,department of neurogenetics,the children’s hospital at westmead,westmead,nsw, Australia, john p. hussman institute for human genomics,university of miami miller school of medicine,miami,fl,united states,dr. john t. macdonald department of human genetics,university of miami miller school of medicine,miami,fl, United States, department of neurology,concord repatriation general hospital,concord,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw,australia,sydney medical school,university of sydney,camperdown,nsw,australia,molecular medicine,concord repatriation general hospital,concord,nsw, Australia, northcott neuroscience laboratory,anzac research institute,concord,nsw,australia,sydney medical school,university of sydney,camperdown,nsw,australia,molecular medicine,concord repatriation general hospital,concord,nsw, Australia
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Authors
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