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

Luz María González Huerta, Sorina Gómez González, Jaime Toral López

Psychiatric genetics 2021 Jun 01

filter terms:

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. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Luz María González Huerta, Sorina Gómez González, Jaime Toral López. Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome. Psychiatric genetics. 2021 Jun 01;31(3):95-99