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.
Slide 3 : Growing number of ASD loci reflects progress and heterogeneity Abrahams and Geschwind., Nature Reviews Genetics, 2008
Slide 4 : Abrahams and Geschwind., Nature Reviews Genetics, 2008 ASD-related syndromes
Slide 5 : Abrahams and Geschwind., Nature Reviews Genetics, 2008 Linkage Studies in the ASDs
Slide 6 : Association Studies in the ASDs Abrahams and Geschwind., Nature Reviews Genetics, 2008
Slide 7 : 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
Slide 8 : Wernicke’s area (STG) essential for language http://en.wikipedia.org/wiki/Arcuate_fasciculus, Reid Offringa 1/9/06
Slide 9 : Gene expression differences distinguish cortical regions Abrahams et al., PNAS, 2007
Slide 10 : CNTNAP2 is enriched in human frontal cortex and basal ganglia ) Abrahams et al., PNAS, 2007
Slide 11 : CNTNAP2 is enriched in human frontal cortex and basal ganglia Mouse Brain (Sagittal Plane) Human GW20 Brain(Sagittal Plane) Abrahams et al., PNAS, 2007
Slide 12 : 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’
Slide 15 : Alarcon*, Abrahams* et al., AJHG, 2008 Association with CNTNAP2 confirmed in independent cohort
Slide 16 : CNTNAP2 localizes to Nodes of Ranvier on myelinated axons Poliak et al., Neuron, 1999
Slide 17 : Homozygous mutation in Cntnap2 results in disease phenotype in humans. Strauss et al., NEJM, 2006
Slide 18 : Rare CNTNAP2 coding variants in AGRE patients WORD QTL Bakkaloglu*, O’Roak* et al., AJHG, 2008
Slide 19 : 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

 


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