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000154375 0247_ $$2doi$$a10.1038/s41436-020-0924-0
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000154375 037__ $$aDZNE-2021-00228
000154375 041__ $$aEnglish
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000154375 1001_ $$0P:(DE-HGF)0$$aBis-Brewer, Dana M$$b0
000154375 245__ $$aAssessing non-Mendelian inheritance in inherited axonopathies.
000154375 260__ $$aLondon, UK$$bSpringer Nature$$c2020
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000154375 520__ $$aInherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems. Mendelian high-penetrance alleles in over 100 different genes have been shown to cause IA; however, about 50% of IA cases do not receive a genetic diagnosis. A more comprehensive spectrum of causative genes and alleles is warranted, including causative and risk alleles, as well as oligogenic multilocus inheritance.Through international collaboration, IA exome studies are beginning to be sufficiently powered to perform a pilot rare variant burden analysis. After extensive quality control, our cohort contained 343 CMT cases, 515 HSP cases, and 935 non-neurological controls. We assessed the cumulative mutational burden across disease genes, explored the evidence for multilocus inheritance, and performed an exome-wide rare variant burden analysis.We replicated the previously described mutational burden in a much larger cohort of CMT cases, and observed the same effect in HSP cases. We identified a preliminary risk allele for CMT in the EXOC4 gene (p value= 6.9 × 10-6, odds ratio [OR] = 2.1) and explored the possibility of multilocus inheritance in IA.Our results support the continuing emergence of complex inheritance mechanisms in historically Mendelian disorders.
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000154375 650_7 $$2Other$$aCharcot–Marie–Tooth disease
000154375 650_7 $$2Other$$ahereditary spastic paraplegia
000154375 650_7 $$2Other$$ainherited axonopathy
000154375 650_7 $$2Other$$amutational burden
000154375 650_7 $$2Other$$aoligogenic inheritance
000154375 650_2 $$2MeSH$$aAlleles
000154375 650_2 $$2MeSH$$aCharcot-Marie-Tooth Disease: diagnosis
000154375 650_2 $$2MeSH$$aCharcot-Marie-Tooth Disease: genetics
000154375 650_2 $$2MeSH$$aHumans
000154375 650_2 $$2MeSH$$aMutation
000154375 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: diagnosis
000154375 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000154375 650_2 $$2MeSH$$aExome Sequencing
000154375 7001_ $$aGan-Or, Ziv$$b1
000154375 7001_ $$aSleiman, Patrick$$b2
000154375 7001_ $$aConsortium, Inherited Neuropathy$$b3$$eCollaboration Author
000154375 7001_ $$aHakonarson, Hakon$$b4
000154375 7001_ $$aFazal, Sarah$$b5
000154375 7001_ $$aCourel, Steve$$b6
000154375 7001_ $$aCintra, Vivian$$b7
000154375 7001_ $$aTao, Feifei$$b8
000154375 7001_ $$aEstiar, Mehrdad A$$b9
000154375 7001_ $$aTarnopolsky, Mark$$b10
000154375 7001_ $$aBoycott, Kym M$$b11
000154375 7001_ $$aYoon, Grace$$b12
000154375 7001_ $$aSuchowersky, Oksana$$b13
000154375 7001_ $$aDupré, Nicolas$$b14
000154375 7001_ $$aCheng, Andrew$$b15
000154375 7001_ $$aLloyd, Thomas E$$b16
000154375 7001_ $$aRouleau, Guy$$b17
000154375 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b18$$udzne
000154375 7001_ $$0P:(DE-HGF)0$$aZüchner, Stephan$$b19$$eCorresponding author
000154375 7001_ $$aRodriguez, Aixa$$b20
000154375 7001_ $$aBacha, Alexa$$b21
000154375 7001_ $$aKosikowski, Ashley$$b22
000154375 7001_ $$aWood, Beth$$b23
000154375 7001_ $$aMcCray, Brett$$b24
000154375 7001_ $$aBlume, Brianna$$b25
000154375 7001_ $$aSiskind, Carly$$b26
000154375 7001_ $$aSumner, Charlotte$$b27
000154375 7001_ $$aCalabrese, Daniela$$b28
000154375 7001_ $$aWalk, David$$b29
000154375 7001_ $$aVujovic, Dragan$$b30
000154375 7001_ $$aPark, Eun$$b31
000154375 7001_ $$aMuntoni, Francesco$$b32
000154375 7001_ $$aDonlevy, Gabrielle$$b33
000154375 7001_ $$aAcsadi, Gyula$$b34
000154375 7001_ $$aDay, John$$b35
000154375 7001_ $$aBurns, Joshua$$b36
000154375 7001_ $$aLi, Jun$$b37
000154375 7001_ $$aKrajewski, Karen$$b38
000154375 7001_ $$aEichinger, Kate$$b39
000154375 7001_ $$aCornett, Kayla$$b40
000154375 7001_ $$aMullen, Krista$$b41
000154375 7001_ $$aPerez, Laura$$b42
000154375 7001_ $$aGutmann, Laurie$$b43
000154375 7001_ $$aBarrett, Maria$$b44
000154375 7001_ $$aSaporta, Mario$$b45
000154375 7001_ $$aSkorupinska, Mariola$$b46
000154375 7001_ $$aGrant, Natalie$$b47
000154375 7001_ $$aBray, Paula$$b48
000154375 7001_ $$aSeyedsadjadi, Reza$$b49
000154375 7001_ $$aZuccarino, Riccardo$$b50
000154375 7001_ $$aFinkel, Richard$$b51
000154375 7001_ $$aLewis, Richard$$b52
000154375 7001_ $$aYum, Sabrina$$b53
000154375 7001_ $$aHilbert, Sarah$$b54
000154375 7001_ $$aThomas, Simone$$b55
000154375 7001_ $$aBehrens-Spraggins, Steffen$$b56
000154375 7001_ $$aJones, Tara$$b57
000154375 7001_ $$aGrider, Tiffany$$b58
000154375 7001_ $$aEstilow, Tim$$b59
000154375 7001_ $$aFridman, Vera$$b60
000154375 7001_ $$aReilly, Mary M$$b61
000154375 7001_ $$aShy, Michael E$$b62
000154375 7001_ $$aBacon, Chelsea J$$b63
000154375 7001_ $$aFeely, Shawna M E$$b64
000154375 7001_ $$aRossor, Alexander M$$b65
000154375 7001_ $$aHerrmann, David N$$b66
000154375 773__ $$0PERI:(DE-600)2063504-7$$a10.1038/s41436-020-0924-0$$gVol. 22, no. 12, p. 2114 - 2119$$n12$$p2114 - 2119$$tGenetics in medicine$$v22$$x1530-0366$$y2020
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