Article
Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2.
Autism research : official journal of the International Society for Autism Research - 1 Apr 2020
Cukier Holly N, Griswold Anthony J, Hofmann Natalia K, Gomez Lissette, Whitehead Patrice L, Abramson Ruth K, Gilbert John R, Cuccaro Michael L, Dykxhoorn Derek M, Pericak-Vance Margaret A
Abstract excerpt
Whole exome sequencing and copy-number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop-gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a...
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