Journal
SCIENCE
Volume 321, Issue 5886, Pages 218-223Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1157657
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Funding
- Howard Hughes Medical Institute Funding Source: Medline
- NHGRI NIH HHS [N01-HG-65403] Funding Source: Medline
- NICHD NIH HHS [5P30HD018655-26] Funding Source: Medline
- NIMH NIH HHS [1K01MH71801, MH64547, 1K23MH080954-01, K01 MH071801-05, K01 MH071801-04, K01 MH071801, K23 MH080954-01, 1R01 MH083565, R01 MH083565, K23 MH080954] Funding Source: Medline
- NINDS NIH HHS [R01 NS048276, R01 NS048276-03, R01 NS048276-01, 5R01NS048276-05, R01 NS048276-02, R01 NS048276-05, R01 NS048276-04] Funding Source: Medline
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To find inherited causes of autism- spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 ( protocadherin 10) and DIA1 ( deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of homozygosity mapping in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.
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