Cohesin Complex-Associated Holoprosencephaly
作者： Paul Kruszka , Seth I Berger , Valentina Casa , Mike R Dekker , Jenna Gaesser
DOI: 10.1093/BRAIN/AWZ210
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摘要: Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one most common human developmental disorders. Despite decades phenotype-driven research, 80-90% aneuploidy-negative individuals with a probable genetic aetiology do not have diagnosis. Here we report associated variants in two X-linked cohesin complex genes, STAG2 and SMC1A, loss-of-function 10 missense variant one. Additionally, four genes that are X-linked, SMC3 RAD21. Using whole mount situ hybridization, show SMC1A expressed prosencephalic neural folds during primary neurulation mouse, consistent forebrain morphogenesis pathogenesis. Finally, found shRNA knockdown causes aberrant expression HPE-associated ZIC2, GLI2, SMAD3 FGFR1 stem cells. These findings as an important regulator median development inheritance patterns holoprosencephaly.
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