Department of Neurology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of General medicine, Yangpu Daqiao Community Health Service Center, Shanghai, China.
Clin Neurol Neurosurg. 2022 Jul;218:107255. doi: 10.1016/j.clineuro.2022.107255. Epub 2022 Apr 25.
NHLRC1 gene mutations are present in a varied proportion of patients with Lafora disease (LD). Compound heterozygosity for novel variations of the gene has been reported in progressive Lafora myoclonic epilepsy of Lafora pedigree.
The clinical data of the cases were collected for diagnosis, and the genetic spectrum of the family was confirmed. For molecular diagnosis, whole-exome sequencing (WES) of the pedigree was performed.
A novel biallelic compound heterozygous c.333dupC chr6-18122504 (p.(Gly112ArgfsTer44)) and c.612dupT chr6-18122225 (p.(Gly205Trpfs*29)) mutation in the NHLRC1 gene was identified in our progressive myoclonic epilepsy of Lafora pedigree.
The genetic analysis was useful for the diagnosis of LD. Genetic analysis is recommended for patients and close relatives, and tissue biopsy is an alternative.
NHLRC1 基因突变存在于不同比例的拉佛拉病（LD）患者中。该基因的新型变异的复合杂合性已在拉佛拉家族性进行性肌阵挛癫痫中报道。
收集病例的临床资料进行诊断，并确认家族的遗传谱。进行全外显子组测序（WES）进行分子诊断。
在我们的进行性肌阵挛性癫痫拉佛拉家系中发现 NHLRC1 基因中的新型双等位基因复合杂合 c.333dupC chr6-18122504（p.（Gly112ArgfsTer44））和 c.612dupT chr6-18122225（p.（Gly205Trpfs*29））突变。
遗传分析有助于 LD 的诊断。建议对患者及其近亲进行遗传分析，组织活检是一种替代方法。
