What is ReNU Syndrome?
A newly identified genetic condition. A globally coordinated research effort.
ReNU Syndrome (RNU4-2) is a rare neurodevelopmental genetic disorder with an estimated prevalence of 1 in 35,000 live births, identified in October 2024 (Hollingsworth et al., Nature, 2024). It is caused by pathogenic variants of the RNU4-2 gene, which impair RNA splicing. Diagnosis requires Whole Genome Sequencing (WGS).
ReNU Syndrome is caused by pathogenic variants in the RNU4-2 gene, a non-coding RNA gene that is a critical component of the RNA splicing machinery.
Discovery of RNU4-2
RNU4-2 was identified in October 2024 as one of the leading genetic causes of rare neurodevelopmental disorders, affecting approximately 1 in 35,000 live births.
In Italy, Whole Genome Sequencing (WGS) is needed to diagnose RNU4-2. WES cannot detect it!
Many people with ReNU Syndrome exhibit a happy demeanor, are affectionate, and enjoy swings, water, music, and routines.
ReNU Syndrome Features
Brain Abnormalities
Reduced white matter volume, corpus callosum hypoplasia, ventriculomegaly, delayed myelination
Intellectual Disability
Developmental delays, significant limitations in intellectual functioning and adaptive behavior
Epilepsy
Infantile spasms, focal and tonic-clonic seizures, febrile seizures or status epilepticus
Visual Problems
Optic nerve hypoplasia, cortical vision impairment (CVI), strabismus, nystagmus
Facial Features
Myopathic face, epicanthus, wide nasal bridge, anteverted nares, large cupped ears, full cheeks
Muscle Tone
Hypotonia (low muscle tone) or muscle weakness
Mobility
Delayed walking or inability to walk
Growth
Microcephaly, short stature, hypothyroidism or growth hormone deficiency
Feeding
Feeding difficulties, excessive drooling, constipation, gastroesophageal reflux
Communication
Language acquisition difficulties (may develop alternative communication)
Bone Issues
Low bone density, hip dysplasia, recurrent fractures
ReNU Syndrome Support Tool
Download the complete document on the clinical specifics of ReNU Syndrome, prepared by leading world researchers. An essential support for physicians treating ReNU patients.
Download ReNU Support Tool PDF
The "Associazioni in Rete" programme by Fondazione Telethon brings together associations representing people and families affected by rare genetic diseases, fostering collaboration, the sharing of experiences and dialogue with the research community.
For Sindrome ReNU Italia APS, being part of this network is an important opportunity: it allows us to receive information and support, participate in meetings and events, exchange views with other associations and raise greater awareness of ReNU4-2 Syndrome.
For a young organisation like ours, it means growing, building new partnerships and feeling part of an authoritative network united by the shared goal of supporting families and promoting research.
Learn more on Telethon.it