Ring Finger Protein 135 (RNF135)

RNF135 is a RING finger domain, known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported.One additional individual had a microdeletion including RNF135 and 4 other genes, but not NF1. Although none had clinical features of neurofibromatosis I , the facial features were similar to the NF1 microdeletion syndrome, including broad forehead, downslanting palpebral fissures, broad nasal tip, long philtrum, and thin upper lip. Variable features in 1 or 2 patients included deafness, optic nerve hypoplasia, advanced bone age, ataxia, autistic features, and pulmonary stenosis.