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

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

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 d...

Full description

Bibliographic Details
Main Authors:	Babbs, C, Lloyd, D, Pagnamenta, A, Twigg, SR, Green, J, McGowan, S, Mirza, G, Naples, R, Sharma, V, Volpi, E, Buckle, V, Wall, SA, Knight, S, Parr, JR, Wilkie, A
Format:	Journal article
Language:	English
Published:	2014

Similar Items

Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis
by: Goos, J, et al.
Published: (2016)

De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder
by: Reijnders, M, et al.
Published: (2018)

Coregulated human globin genes are frequently in spatial proximity when active
by: Brown, J, et al.
Published: (2006)

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.
by: Maher, G, et al.
Published: (2016)

Clinical significance of de novo and inherited copy-number variation.
by: Vulto-van Silfhout, A, et al.
Published: (2013)

Clinical Significance of De Novo and Inherited Copy-Number Variation
by: Vulto-van Silfhout, A, et al.
Published: (2013)

Thermodynamics of the high-affinity interaction of TCF4 with beta-catenin.
by: Knapp, S, et al.
Published: (2001)

Coregulation of fibronectin signaling and matrix contraction by tenascin-C and syndecan-4.
by: Midwood, K, et al.
Published: (2004)

Neurodevelopmental, cognitive, and psychosocial outcomes for individuals with pathogenic variants in the TCF12 gene and associated craniosynostosis
by: Kennedy-Williams, P, et al.
Published: (2021)

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
by: Zhou, Y, et al.
Published: (2018)

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
by: Sharma, V, et al.
Published: (2013)

Biparental inheritance of mitochondrial DNA revisited
by: Pagnamenta, AT, et al.
Published: (2021)

Unraveling adaptive evolution: how a single point mutation affects the protein coregulation network.
by: Knight, C, et al.
Published: (2012)

When Noisy Neighbors Are a Blessing: Analysis of Gene Expression Noise Identifies Coregulated Genes
by: Junker, Jan Philipp, et al.
Published: (2014)

Delineation of critical amino acids in activation function 1 of progesterone receptor for recruitment of transcription coregulators
by: Woo, Amanda Rui En, et al.
Published: (2020)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
by: O'Roak, B, et al.
Published: (2011)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
by: O'Roak, B, et al.
Published: (2011)

Finding transcription factor binding motifs for coregulated genes by combining sequence overrepresentation with cross-species conservation
by: Jia, Hui., et al.
Published: (2013)

Autism: in search of susceptibility genes.
by: Lamb, J, et al.
Published: (2002)

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
by: Sharma, V, et al.
Published: (2013)

Global analysis of induced transcription factors and cofactors identifies Tfdp2 as an essential coregulator during terminal erythropoiesis
by: Chen, Cynthia, et al.
Published: (2017)

Hot spots in Tcf4 for the interaction with beta-catenin.
by: Fasolini, M, et al.
Published: (2003)

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
by: Newbury, D, et al.
Published: (2009)

Education and care for adolescents and adults with autism /
by: 294455 Wall, Kate
Published: (2007)

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
by: Sharma, V, et al.
Published: (2013)

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
by: Twigg, SR, et al.
Published: (2004)

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
by: Calpena, E, et al.
Published: (2020)

Dissection of contiguous gene effects for deletions around ERF on chromosome 19
by: Calpena, E, et al.
Published: (2021)

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra
by: Roy, N, et al.
Published: (2019)

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
by: Giannoulatou, E, et al.
Published: (2013)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
by: Pagnamenta, A, et al.
Published: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
by: Pagnamenta, A, et al.
Published: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
by: Pagnamenta, A, et al.
Published: (2011)

TCF-Trans: temporal context fusion transformer for anomaly detection in time series
by: Peng, Xinggan, et al.
Published: (2024)

TCF7L2: the biggest story in diabetes genetics since HLA?
by: Zeggini, E, et al.
Published: (2007)

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
by: Sykes, N, et al.
Published: (2009)

Inherited cardiomyopathies
by: Harper, A, et al.
Published: (2014)

Inherited cardiomyopathies.
by: Watkins, H, et al.
Published: (2011)

Not inheriting the past
by: Maasri, Y
Published: (2012)

Inherited cardiomyopathies
by: Harper, A, et al.
Published: (2014)