Department of Laboratory Medicine, Kosin Gospel University Hospital, Busan, Korea.
Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
Orphanet J Rare Dis. 2022 Mar 4;17(1):111. doi: 10.1186/s13023-022-02251-7.
Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of this disease.
A total of 7 unrelated patients were diagnosed with PKAN in a single tertiary center from August 2009 to February 2018. Ten variants in PANK2 including three novel sequence variants and one large exonic deletion were detected. Sequencing of the breakpoint was performed to predict the mechanism of large deletion and AluSx3 and AluSz6 were found with approximately 97.3% sequence homology.
The findings support the disease-causing role of PANK2 and indicate the possibility that exonic deletion of PANK2 found in PKAN is mediated through Alu-mediated homologous recombination.
脑铁沉积相关神经退行性变描述了一组罕见的异质性进行性神经退行性疾病，其特征是基底节区域铁过度蓄积。泛酸激酶相关神经退行性变（PKAN）是该病的主要形式。
2009 年 8 月至 2018 年 2 月，单一三级中心共诊断出 7 例 PKAN 患者。在 PANK2 中检测到包括三个新的序列变异和一个大外显子缺失在内的 10 种变异。对断点进行测序以预测大片段缺失的机制，发现 AluSx3 和 AluSz6 具有约 97.3%的序列同源性。
这些发现支持 PANK2 的致病作用，并表明 PKAN 中发现的 PANK2 外显子缺失可能是通过 Alu 介导的同源重组介导的。
