Article
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Human molecular genetics - 1 Oct 2017
Mero I-L, Mørk H H, Sheng Y, Blomhoff A, Opheim G L, Erichsen Aa, Vigeland M D, Selmer K K
Abstract excerpt
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity. All patients carried terminal nonsense de novo mutations that seemed to escape nonsense-mediated mRNA decay. The mechanism for pathogenicity is yet unexplained, as it seems that heterozygous loss-of-function variants of KIDINS220 are generally well tolerated. We present a...
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