PMC:4067558 / 1734-3044
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"ASDs are highly heritable,1 and genomic studies have revealed that a substantial proportion of ASD risk resides in high-impact rare variation, ranging from chromosome abnormalities and copy-number variation (CNV)2–6 to single-nucleotide variation (SNV).7–11 These studies have highlighted a striking degree of genetic heterogeneity, implicating both de novo germline mutation and rare inherited ASD variation distributed across numerous genes. De novo CNVs are observed in 5%–10% of screened ASD-affected individuals, and after further follow-up studies, some of them have proven to alter high-risk genes (e.g., NRXN112 [MIM 600565]). De novo or transmitted CNVs, such as 15q11.2–q13 duplications of the affected region in Prader-Willi syndrome (PWS [MIM 176270]) and Angelman syndrome (AS [MIM 105830]), 16p11.2 deletion (MIM 611913), 16p11.2 duplication (MIM 614671), and X-linked deletions including the PTCHD1-PTCHD1AS locus (MIM 300828), have also been found to contribute to risk.6,13,14 Exome and whole-genome sequencing studies have estimated at least another ∼6% contribution to ASD7–10,15 and an additional 5% conferred by rare inherited recessive or X-linked loss-of-function (LoF) SNVs.11,16 A genetic overlap between ASD and other neuropsychiatric conditions has also been increasingly recognized.","tracks":[{"project":"2_test","denotations":[{"id":"24768552-22371046-2047076","span":{"begin":26,"end":27},"obj":"22371046"},{"id":"24768552-21658582-2047077","span":{"begin":214,"end":215},"obj":"21658582"},{"id":"24768552-18252227-2047077","span":{"begin":214,"end":215},"obj":"18252227"},{"id":"24768552-21658581-2047077","span":{"begin":214,"end":215},"obj":"21658581"},{"id":"24768552-17322880-2047077","span":{"begin":214,"end":215},"obj":"17322880"},{"id":"24768552-20531469-2047077","span":{"begin":214,"end":215},"obj":"20531469"},{"id":"24768552-22542183-2047078","span":{"begin":255,"end":257},"obj":"22542183"},{"id":"24768552-22495311-2047078","span":{"begin":255,"end":257},"obj":"22495311"},{"id":"24768552-22495306-2047078","span":{"begin":255,"end":257},"obj":"22495306"},{"id":"24768552-22495309-2047078","span":{"begin":255,"end":257},"obj":"22495309"},{"id":"24768552-23352163-2047078","span":{"begin":255,"end":257},"obj":"23352163"},{"id":"24768552-23533028-2047079","span":{"begin":616,"end":619},"obj":"23533028"},{"id":"24768552-20531469-2047080","span":{"begin":991,"end":993},"obj":"20531469"},{"id":"24768552-23044707-2047080","span":{"begin":991,"end":993},"obj":"23044707"},{"id":"24768552-22542183-2047081","span":{"begin":1096,"end":1098},"obj":"22542183"},{"id":"24768552-22495311-2047081","span":{"begin":1096,"end":1098},"obj":"22495311"},{"id":"24768552-22495306-2047081","span":{"begin":1096,"end":1098},"obj":"22495306"},{"id":"24768552-22495309-2047081","span":{"begin":1096,"end":1098},"obj":"22495309"},{"id":"24768552-23849776-2047081","span":{"begin":1096,"end":1098},"obj":"23849776"},{"id":"24768552-23352163-2047082","span":{"begin":1201,"end":1203},"obj":"23352163"},{"id":"24768552-23352160-2047082","span":{"begin":1201,"end":1203},"obj":"23352160"}],"attributes":[{"subj":"24768552-22371046-2047076","pred":"source","obj":"2_test"},{"subj":"24768552-21658582-2047077","pred":"source","obj":"2_test"},{"subj":"24768552-18252227-2047077","pred":"source","obj":"2_test"},{"subj":"24768552-21658581-2047077","pred":"source","obj":"2_test"},{"subj":"24768552-17322880-2047077","pred":"source","obj":"2_test"},{"subj":"24768552-20531469-2047077","pred":"source","obj":"2_test"},{"subj":"24768552-22542183-2047078","pred":"source","obj":"2_test"},{"subj":"24768552-22495311-2047078","pred":"source","obj":"2_test"},{"subj":"24768552-22495306-2047078","pred":"source","obj":"2_test"},{"subj":"24768552-22495309-2047078","pred":"source","obj":"2_test"},{"subj":"24768552-23352163-2047078","pred":"source","obj":"2_test"},{"subj":"24768552-23533028-2047079","pred":"source","obj":"2_test"},{"subj":"24768552-20531469-2047080","pred":"source","obj":"2_test"},{"subj":"24768552-23044707-2047080","pred":"source","obj":"2_test"},{"subj":"24768552-22542183-2047081","pred":"source","obj":"2_test"},{"subj":"24768552-22495311-2047081","pred":"source","obj":"2_test"},{"subj":"24768552-22495306-2047081","pred":"source","obj":"2_test"},{"subj":"24768552-22495309-2047081","pred":"source","obj":"2_test"},{"subj":"24768552-23849776-2047081","pred":"source","obj":"2_test"},{"subj":"24768552-23352163-2047082","pred":"source","obj":"2_test"},{"subj":"24768552-23352160-2047082","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ec93a2","default":true}]}]}}