Genetic analysis of RNF135 in a French ASD cohort found a significant increase in the frequency of genotypes carrying the p.Arg115Lys missense variant in cases compared to controls (P=0.0019, odds ratio 4.23), including three unrelated patients that were homozygous for the. p.Arg115Lys variant (Tastet et al., 2015). Furthermore, two of the six MMFD probands with RNF135 mutations described in Douglas et al., 2007 also presented with autistic spectrum disorder.
Molecular Function
The protein encoded by this gene acts as an E2-dependent E3 ubiquitin-protein ligase. It is located in the 17q11.2 chromosomal region, which is known to be frequently deleted in patients with neurofibromatosis, and heterozygous mutations in the RNF135 gene are associated with macrocephaly, macrosomia, and facial dysmorphism syndrome (MMFD; OMIM 614192).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
