Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Objective Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age. Methods WGS from blood‐derived genomic DNA was used for homozygosity mapping and a rare variant search. RNA from isolated...