Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome

• Published in: Psychiatric genetics Vol. 31; no. 3; p. 95
• Main Authors: González Huerta, Luz María, Gómez González, Sorina, Toral López, Jaime
• Format: Journal Article
• Language: English
• Published: England 01.06.2021
• Subjects: Adolescent; Brain - diagnostic imaging; Female; Humans; Magnetic Resonance Imaging; Mexico; Mutation; Pantothenate Kinase-Associated Neurodegeneration - diagnosis; Pantothenate Kinase-Associated Neurodegeneration - genetics; Phenotype; Phosphotransferases (Alcohol Group Acceptor) - genetics; Sequence Analysis, DNA; Syndrome; Mexico
• ISSN: 1473-5873
• DOI: 10.1097/YPG.0000000000000278

The proband in this study was a 16-year-old Mexican girl with psychotic and dyskinetic symptoms, and brain MRI showed at the basal ganglia the 'eye-of-the-tiger' sign. DNA direct sequencing identified a novel compound heterozygous mutation in the PANK2 gene. The diagnosis of pantothenate kinase-associated neurodegeneration (PKAN) disorder was made. This novel change increases the pool of PANK2 mutations. It supports the published data suggesting that PANK2 plays a significant role in patients expressing psychiatric phenotypes in the PKAN syndrome. When a patient presents with dyskinesia and psychiatric symptoms, PANK2 should be investigated as a possible diagnosis, and genetic consultation should be recommended.