Welcome to this site for gathering genotype-phenotype information on variants in this non-protein coding small nuclear RNA that is the namesake of the minor spliceosome.

This website provides information on patients with mutations in the RNU12 gene, including clinical data, molecular data, management and research options.  

Biallelic mutations in the RNU12 gene cause a multisystem disorder with several presentations, depending on the variant involved. Known presentations include:

Early onset cerebellar ataxia (EOCA):  
Congenital hypotonia
Delayed motor milestones
Mild learning difficulties
Seizures (febrile or complex partial)
Dysarthric speech
Nystagmus
Truncal ataxia and intention tremor
Wide based gait, falls on turning
MRI: reduced cerebellar vermis and cerebellar hemisphere volumes

CDAGS:
Craniosynostosis
Delayed closure of the fontanelles
Cranial defects
Clavicular hypoplasia
Anal and Genitourinary malformations
Skin manifestations

Not all individuals with a mutation in the RNU12 gene have these features.  

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RNU12 gene.  

Elizabeth Ross, MD, PhD, Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA, mer2005@med.cornell.edu

Ji-Sun Kim, MSc, CGC, Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA, jik4002@med.cornell.edu

Alokkumar Jha, PhD, Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA, alj4008@med.cornell.edu

Rahul Kanadia, PhD, Physiology and Neurobiology, University of Connecticut, Storrs, CT, USA, rahul.kanadia@uconn.edu