ClinVar

In a 9-year-old boy with intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP; 619911), Ramos et al. (2019) identified a de novo heterozygous 1-bp duplication (c.326dupA, ENST00000339562) in the NR4A2 gene, predicted to result in a frameshift and premature termination (Ser110ValfsTer2). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in a loss of function. At age 5 years, the patient developed seizures consistent with rolandic epilepsy.

Wirth et al. (2020) identified a de novo heterozygous c.326dupA mutation (c.326dupA, NM_006186.3) in exon 3 of the NR4A2 gene in a 37-year-old man (patient 1) with IDLDP. He had a history of mild global developmental delay with significant speech impairment since early childhood and developed dopa-responsive dystonia-parkinsonism at age 29 years. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing; functional studies of the variant and studies of patient cells were not performed.