Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. The typical "eye-of-the-tiger" sign is the characteristic manifestation of brain magnetic resonance imaging (MRI). We report a Chinese patient with atypical PKAN whose brain MRI scans displayed the typical "eye-of-the-tiger" sign in bilateral pallidum. Genetic analysis identified a compound heterozygous mutation (c. 629-2A > T, c. 1130T > C) for the PANK2 gene. These two mutations were further demonstrated in his parents and other relatives.

• Authors: Jing Yuan, Canling Zhanga, Shan Qiao, Aihua Wang, Shanchao Zhang
• Journal: Neurology India (Neurol India) 2022 Mar-Apr Vol. 70 Issue 2 Pg. 737-739 ISSN: 1998-4022 [Electronic] India
• PMID: 35532650 (Publication Type: Case Reports, Journal Article)

Chemical References

• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Genetic Testing
• Humans
• Magnetic Resonance Imaging
• Mutation
• Pantothenate Kinase-Associated Neurodegeneration (diagnosis)
• Phosphotransferases (Alcohol Group Acceptor) (genetics)