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Article

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

Psychiatric genetics - 1 Jun 2021

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

Abstract excerpt

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...

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PMID: 33853092
DOI: 10.1097/YPG.0000000000000278

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