Article
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Journal of medical genetics - 1 Nov 2014
Babbs Christian, Lloyd Deborah, Pagnamenta Alistair T, Twigg Stephen R F, Green Joanne, McGowan Simon J, Mirza Ghazala, Naples Rebecca, Sharma Vikram P, Volpi Emanuela V, Buckle Veronica J, Wall Steven A, Knight Samantha J L, Parr Jeremy R, Wilkie Andrew O M
Abstract excerpt
BACKGROUND: Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not detected in either parent, indicating de novo mutation with parental germinal mosaicism. We hypothesised that the...
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