A case of a ADPRHL2 Mutation; Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Introduction: ADPRHL2 is thought to function in the pathway of ADP ribosylation, which is a reversible posttranslational modification used to regulate key cellular processes such as transcription, DNA repair, translation, and apoptosis. Loss-of-function mutations in the ADPRHL2 gene result Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Here we report of an individual diagnosed Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Case Report: 14-year-old girl was consulted from the orthopedics clinic to pediatric neurology clinic due to scoliosis. Her prenatal and natal history was unremarkable and was born to healthy consanguineous parents. Her early development was normal. She was diagnosed epilepsy and seizures were controlled with valproate therapy. She had moderate mental retardation. Her neurological exam revealed distal weakness in upper and lower extremities, pes cavus and hammer toes were noted. EMG was found to be consistent with axonal polyneuropathy. Whole exome sequencing (WES) study was done and a mutation in the ADPRHL2 c.235A>C gene was detected. Discussion: The present study underscores the usefulness of WES in finding the genetic basis of neurological disease.
Keywords: ADPRHL2, Developmental Delay, Scoliosis