| Symbol
| AUTS22
|
| Location
| 14q21.1
|
| Name
|
autism spectrum disorder, LRFN5 related |
| Corresponding gene
|
LRFN5
|
| Genetic determination
| epigenetic |
| Function/system disorder
| psychiatry disorder |
| Type
| susceptibility factor
|
| Name
| synaptic adhesion-like molecules
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| other epigenetic
| breakpoint
| other
| alteration of the epigenetic signature several Mb downstream of a translocation breakpoint
| |
| Remark(s)
|
LRFN5 lies in the middle of a "gene desert" of 5-7Mb; regulation and not genomic dosage of LRFN5 is of critical importance as deletion are phenotypically neutral |