Advances in autism genetics Ppt Powerpoint Presentation slides Brett Abrahams Medical Slideshow Advanced Topics in Genetics: Cancer Genetics

Advances in autism genetics

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Slide 1 :

Brett Abrahams & Daniel Geschwind brett.abrahams@gmail.com Advances in autism genetics Jonathan Lerman, untitled

Slide 2 :

Conclusions Autism is a heterogeneous syndrome that is defined by impairments in three domains - social interaction, language and restricted and/or repetitive behaviour. Defined mutations, genetic syndromes and de novo copy number variation probably account for about 10–20% cases, with none of these known causes accounting for more than 1–2%. • None of the molecules or syndromes currently linked to the ASDs has been proven to selectively cause autism. Understanding why these mutations lead to ASDs in only a subset of cases will help to clarify how specific aspects of cognition and behaviour are ultimately shaped. The identification of molecular links between distinct ASD-related syndromes will lead towards key signaling pathways that are dysregulated in the ASDs.

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Growing number of ASD loci reflects progress and heterogeneity Abrahams and Geschwind., Nature Reviews Genetics, 2008

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Abrahams and Geschwind., Nature Reviews Genetics, 2008 ASD-related syndromes

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Abrahams and Geschwind., Nature Reviews Genetics, 2008 Linkage Studies in the ASDs

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Association Studies in the ASDs Abrahams and Geschwind., Nature Reviews Genetics, 2008

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Common variation in human CNTNAP2 is associated with language performance CNTNAP2 is restricted to circuitry involvedin human executive function Rare mutations in CNTNAP2 result in a syndromic form of autism associated withseizures and language regression CNTNAP2 – a putative ASD gene

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Wernicke’s area (STG) essential for language http://en.wikipedia.org/wiki/Arcuate_fasciculus, Reid Offringa 1/9/06

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Gene expression differences distinguish cortical regions Abrahams et al., PNAS, 2007

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CNTNAP2 is enriched in human frontal cortex and basal ganglia ) Abrahams et al., PNAS, 2007

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CNTNAP2 is enriched in human frontal cortex and basal ganglia Mouse Brain (Sagittal Plane) Human GW20 Brain(Sagittal Plane) Abrahams et al., PNAS, 2007

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Expression differences observed regardless of developmental stage CNTNAP2 Reporter 219300_s_atHuman GeneAtlas GNF1H, gcRMA Cntnap2 Reporter gnf1m04688_a_atMouse GeneAtlas GNF1M, gcRMA Abrahams et al., PNAS, 2007

Slide 13 :

Previous work points to 7q in ASD and language Alarcon et al., AJHG, 2002 Nonparametric QTL results for Chromosome 7 following a genome scan for age at first word (solid line), age at first phrase (dotted line), and a composite measure for repetitive behavior (dashed line).

Slide 14 :

Alarcon*, Abrahams* et al., AJHG, 2008 Common variation in CNTNAP2 associated with ‘age at first word’

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Alarcon*, Abrahams* et al., AJHG, 2008 Association with CNTNAP2 confirmed in independent cohort

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CNTNAP2 localizes to Nodes of Ranvier on myelinated axons Poliak et al., Neuron, 1999

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Homozygous mutation in Cntnap2 results in disease phenotype in humans. Strauss et al., NEJM, 2006

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Rare CNTNAP2 coding variants in AGRE patients WORD QTL Bakkaloglu*, O’Roak* et al., AJHG, 2008

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Evidence scores for ASD candidates Abrahams and Geschwind., Nature Reviews Genetics, 2008

Slide 20 :

Leveraging Heterogeneity to understand the ASDs Abrahams and Geschwind., Nature Reviews Genetics, 2008

Slide 21 :

Leveraging Heterogeneity to understand the ASDs Abrahams and Geschwind., Nature Reviews Genetics, 2008

	abrahams 1 Years ago. Category: Neurology

Tags:	Neurology

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