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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Abstract:

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 rearrangement was causative of their ASD and localised the chromosome 22 breakpoints...

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Publication status:
Published

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Journal:
Journal of medical genetics
Volume:
51
Issue:
11
Pages:
737-747
Publication date:
2014-11-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Source identifiers:
484759

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