Ring Finger 216 Like Protein (RNF216L)

A high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of autism. A previous study on a Tunisian boy carrying a t(7;16) translocation identified the 7p22.1 as a positional candidate region for autism on chromosome 7. The characterization of the chromosomal breakpoints helped us to identify new candidate regions on chromosome 16p11.2 which contain no known genes and the other one on 7p22.1 containing a portion of genes RNF216L. RNF216L is predicted to be an E3ubiquitin-ligase. Quantitative PCR demonstrates that RNF216L gene has an ubiquitous expression and that it is strongly expressed in fetal and adult brain. The RNF216L expression is increased in the patient blood cells in comparison to controls.