Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry
Broad Institute · Boston Children's Hospital · +6 more institutions
Abstract
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…
Citation impact
- FWCI
- 39.35
- Percentile
- 100%
- References
- 45
Authors
25- EMEric M. MorrowCorresponding
Broad Institute, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Autism Consortium, Massachusetts Institute of Technology
- SYSeung-Yun Yoo
Broad Institute, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Autism Consortium, Massachusetts Institute of Technology
- SWSteven W. Flavell
Broad Institute, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Autism Consortium, Massachusetts Institute of Technology
- TKTae-Kyung Kim
Broad Institute, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Autism Consortium, Massachusetts Institute of Technology
- YLYingxi Lin
Broad Institute, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Autism Consortium, Massachusetts Institute of Technology
Topics & keywords
- Autism
- Genetics
- Gene
- Biology
- Protocadherin
- Mutation
- Disease gene identification
- Cadherin
- Good health and well-being