ReNU syndrome (RNU4-2) [1 gene]

ReNU syndrome has been recently described and is due to genetic variants in non-coding RNA RNU4-2. This syndrome is characterized by intellectual disability (generally moderate to severe), language abnormalities, microcephaly, short stature, low weight, hypotonia, and epilepsy. Ophthalmologic (namely strabismus, nystagmus, and refractive errors) and musculoskeletal abnormalities (hypermobility, mild scoliosis, and easily fractured bones) have also been described. Patients also seem to show a characteristic dysmorphic pattern.

It is estimated that about 0.4% of patients with neurodevelopmental disorders could harbor variants in this gene.

It is estimated that up to 60% of patients with neurodevelopmental disorders remain undiagnosed after performing the indicated genetic tests, including exome sequencing. Since the RNU4-2 gene cannot be captured by commonly used exome sequencing kits, this study can allow identifying patients who have already been studied and for whom no diagnosis has been reached.

This study is indicated for patients with intellectual disability who have not been genetically tested or have previously tested negative (e.g. on CGH array or exome sequencing).
It is particularly indicated for those with moderate to severe intellectual disability. Other features such as microcephaly, short stature, low weight, hypotonia, or epilepsy are common.