Movement disorders : official journal of the Movement Disorder Society · 2026
SLC20A2 Intragenic Structural Variants as a Cause of Primary Brain Calcification.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Xiao Wen-Hao, Zuo Dan-Dan, Zheng Ze-Hong, Chen Ya-Fang, Guo Xin-Xin, Fang Min-Kun, Yao Xiang-Ping, Su Hui-Zhen, Cheng Xue-Wen, Wang Ning, Zhao Miao, Chen Wan-Jin, Fang Ling, Li Jin-Lan, Zeng Yi-Heng
Аннотация
BACKGROUND: Intragenic structural variants of SLC20A2 remain poorly characterized in primary brain calcification (PBC).
OBJECTIVES: The aim was to identify and characterize intragenic SLC20A2 structural variants in PBC.
METHODS: One familial PBC pedigree and two sporadic patients underwent whole-genome sequencing and copy-number analysis, followed by polymerase chain reaction (PCR) and Sanger validation. Long-read sequencing (LRS) resolved complex architecture. Transcript and protein effects were assessed by reverse transcription (RT)-PCR, RT-quantitative PCR, and western blotting.
RESULTS: We identified three intragenic SLC20A2 structural variants: exon 2-3 and exon 5 tandem duplications in F1 and F3, respectively, and a complex exon 2-3 inverted insertion in F2. F1 and F3 showed aberrant, frameshift-generating transcripts, and F3 showed reduced SLC20A2 mRNA and protein. Accordingly, the F1 and F3 variants were classified as pathogenic, whereas the F2 variant remained of uncertain significance.
CONCLUSIONS: Our study expands the spectrum of intragenic SLC20A2 structural variation in PBC and highlights the value of copy number variation analysis and LRS in genetically unresolved individuals. © 2026 International Parkinson and Movement Disorder Society.
OBJECTIVES: The aim was to identify and characterize intragenic SLC20A2 structural variants in PBC.
METHODS: One familial PBC pedigree and two sporadic patients underwent whole-genome sequencing and copy-number analysis, followed by polymerase chain reaction (PCR) and Sanger validation. Long-read sequencing (LRS) resolved complex architecture. Transcript and protein effects were assessed by reverse transcription (RT)-PCR, RT-quantitative PCR, and western blotting.
RESULTS: We identified three intragenic SLC20A2 structural variants: exon 2-3 and exon 5 tandem duplications in F1 and F3, respectively, and a complex exon 2-3 inverted insertion in F2. F1 and F3 showed aberrant, frameshift-generating transcripts, and F3 showed reduced SLC20A2 mRNA and protein. Accordingly, the F1 and F3 variants were classified as pathogenic, whereas the F2 variant remained of uncertain significance.
CONCLUSIONS: Our study expands the spectrum of intragenic SLC20A2 structural variation in PBC and highlights the value of copy number variation analysis and LRS in genetically unresolved individuals. © 2026 International Parkinson and Movement Disorder Society.