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000155888 0247_ $$2doi$$a10.1016/j.ajhg.2021.04.024
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000155888 0247_ $$2pmc$$apmc:PMC8206390
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000155888 0247_ $$2ISSN$$a1537-6605
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000155888 037__ $$aDZNE-2021-01048
000155888 041__ $$aEnglish
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000155888 1001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b0$$eFirst author$$udzne
000155888 245__ $$aBi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
000155888 260__ $$aNew York, NY$$bElsevier$$c2021
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000155888 520__ $$aBCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. The human phenotype is less severe compared with the Bcas3 knockout mouse model and cannot be explained by angiogenic defects alone. Consistent with being loss-of-function alleles, we observed absence of BCAS3 in probands' primary fibroblasts. By comparing the transcriptomic and proteomic data based on probands' fibroblasts with those of the knockout mouse model, we identified similar dysregulated pathways resulting from over-representation analysis, while the dysregulation of some proposed key interactors could not be confirmed. Together with the results from a tissue-specific Drosophila loss-of-function model, we demonstrate a vital role for BCAS3 in neural tissue development.
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000155888 650_7 $$2Other$$aBCAS3
000155888 650_7 $$2Other$$aUAS-Gal4
000155888 650_7 $$2Other$$afibroblasts
000155888 650_7 $$2Other$$aglobal developmental delay
000155888 650_7 $$2Other$$amicrocephaly
000155888 650_7 $$2Other$$aneurodevelopmental disorder
000155888 650_7 $$2Other$$aproteomics
000155888 650_7 $$2Other$$apyramidal tract involvement
000155888 650_7 $$2Other$$athin corpus callosum
000155888 650_7 $$2Other$$atranscriptomics
000155888 650_7 $$2NLM Chemicals$$aBCAS3 protein, human
000155888 650_7 $$2NLM Chemicals$$aNeoplasm Proteins
000155888 650_7 $$2NLM Chemicals$$aProteome
000155888 650_2 $$2MeSH$$aAdolescent
000155888 650_2 $$2MeSH$$aAdult
000155888 650_2 $$2MeSH$$aAnimals
000155888 650_2 $$2MeSH$$aCell Movement
000155888 650_2 $$2MeSH$$aChild
000155888 650_2 $$2MeSH$$aChild, Preschool
000155888 650_2 $$2MeSH$$aDrosophila
000155888 650_2 $$2MeSH$$aFemale
000155888 650_2 $$2MeSH$$aFibroblasts: metabolism
000155888 650_2 $$2MeSH$$aFibroblasts: pathology
000155888 650_2 $$2MeSH$$aHumans
000155888 650_2 $$2MeSH$$aInfant
000155888 650_2 $$2MeSH$$aLoss of Function Mutation
000155888 650_2 $$2MeSH$$aLoss of Heterozygosity
000155888 650_2 $$2MeSH$$aMale
000155888 650_2 $$2MeSH$$aMice
000155888 650_2 $$2MeSH$$aMice, Knockout
000155888 650_2 $$2MeSH$$aNeoplasm Proteins: genetics
000155888 650_2 $$2MeSH$$aNeoplasm Proteins: metabolism
000155888 650_2 $$2MeSH$$aNeurodevelopmental Disorders: etiology
000155888 650_2 $$2MeSH$$aNeurodevelopmental Disorders: metabolism
000155888 650_2 $$2MeSH$$aNeurodevelopmental Disorders: pathology
000155888 650_2 $$2MeSH$$aPedigree
000155888 650_2 $$2MeSH$$aProteome: analysis
000155888 650_2 $$2MeSH$$aYoung Adult
000155888 7001_ $$0P:(DE-2719)9000570$$aHannan, Shabab B$$b1$$udzne
000155888 7001_ $$aDyack, Sarah$$b2
000155888 7001_ $$aMacKay, Sara B$$b3
000155888 7001_ $$aSchatz, Ulrich$$b4
000155888 7001_ $$aFleger, Martin$$b5
000155888 7001_ $$aKurringer, Andreas$$b6
000155888 7001_ $$aBalousha, Ghassan$$b7
000155888 7001_ $$aGhanim, Zaid$$b8
000155888 7001_ $$aAlkuraya, Fowzan S$$b9
000155888 7001_ $$aAlzaidan, Hamad$$b10
000155888 7001_ $$aAlsaif, Hessa S$$b11
000155888 7001_ $$aMitani, Tadahiro$$b12
000155888 7001_ $$aBozdogan, Sevcan$$b13
000155888 7001_ $$aPehlivan, Davut$$b14
000155888 7001_ $$aLupski, James R$$b15
000155888 7001_ $$aGleeson, Joseph J$$b16
000155888 7001_ $$aDehghani, Mohammadreza$$b17
000155888 7001_ $$aMehrjardi, Mohammad Y V$$b18
000155888 7001_ $$aSherr, Elliott H$$b19
000155888 7001_ $$aParks, Kendall C$$b20
000155888 7001_ $$aArgilli, Emanuela$$b21
000155888 7001_ $$aBegtrup, Amber$$b22
000155888 7001_ $$aGalehdari, Hamid$$b23
000155888 7001_ $$aBalousha, Osama$$b24
000155888 7001_ $$aShariati, Gholamreza$$b25
000155888 7001_ $$aMazaheri, Neda$$b26
000155888 7001_ $$aMalamiri, Reza A$$b27
000155888 7001_ $$aPagnamenta, Alistair T$$b28
000155888 7001_ $$aKingston, Helen$$b29
000155888 7001_ $$aBanka, Siddharth$$b30
000155888 7001_ $$aJackson, Adam$$b31
000155888 7001_ $$aOsmond, Mathew$$b32
000155888 7001_ $$aConsortium, Care4Rare Canada$$b33$$eCollaboration Author
000155888 7001_ $$aConsortium, Genomics England Research$$b34$$eCollaboration Author
000155888 7001_ $$aRieß, Angelika$$b35
000155888 7001_ $$aHaack, Tobias B$$b36
000155888 7001_ $$aNägele, Thomas$$b37
000155888 7001_ $$0P:(DE-2719)2813843$$aSchuster, Stefanie$$b38$$udzne
000155888 7001_ $$0P:(DE-2719)2810998$$aHauser, Stefan$$b39$$udzne
000155888 7001_ $$aAdmard, Jakob$$b40
000155888 7001_ $$aCasadei, Nicolas$$b41
000155888 7001_ $$aVelic, Ana$$b42
000155888 7001_ $$aMacek, Boris$$b43
000155888 7001_ $$aOssowski, Stephan$$b44
000155888 7001_ $$aHoulden, Henry$$b45
000155888 7001_ $$aMaroofian, Reza$$b46
000155888 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b47$$eLast author$$udzne
000155888 773__ $$0PERI:(DE-600)1473813-2$$a10.1016/j.ajhg.2021.04.024$$gVol. 108, no. 6, p. 1069 - 1082$$n6$$p1069 - 1082$$tThe American journal of human genetics$$v108$$x0002-9297$$y2021
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