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Isolate Populations and Rare Variation in Autism Spectrum Disorders 

Isolate Populations and Rare Variation in Autism Spectrum Disorders
Isolate Populations and Rare Variation in Autism Spectrum Disorders

Eric M. Morrow

and Christopher A. Walsh

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date: 09 July 2020

“Forward” genetics efforts in autism spectrum disorders (ASDs) offer a critical opportunity to tackle this profound and costly problem. Given the heterogeneity of ASD genetics, multiple concurrent approaches to dissecting the genetic susceptibility of the condition is necessary. Examination of isolate populations and rare variants is one such complementary and important approach. This chapter outlines eight hypotheses central to the forward genetic approaches of isolate populations and rare variants. It provides a rationale for this approach, particularly from the point of view of populations with recent shared ancestry that may be enriched for autosomal recessive loci. Finally, it presents some of the early data in this area of ASD genetics. The central hypotheses of the rare variant and isolate population approach in ASDs include: ASDs are genetically heterogeneous; a subset of ASDs worldwide will result from individually rare, highly penetrant loci; and as a syndrome of neurodevelopmental conditions, ASD genetics will be informed by two other syndromes of neurodevelopment—namely, intellectual disability and epilepsy.

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