Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease

被引：1
|
作者：
Tang, Xinghua [1 ]
Li, Xinjuan [2 ]
Chen, Yuncan [3 ]
Wu, Dongyan [3 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Neurol, Shanghai, Peoples R China
[2] Yangpu Daqiao Community Hlth Serv Ctr, Dept Gen Med, Shanghai, Peoples R China
[3] Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2022年 / 218卷
关键词：
Lafora disease; NHLRC1; gene; Epilepsy; Heterozygous variant; Heredity; PROGRESSIVE MYOCLONUS EPILEPSY; MUTATIONS; EPM2A;
D O I：
10.1016/j.clineuro.2022.107255
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Purpose: 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. Methods: 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. Results: 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. Conclusions: 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.
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页数：6
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