Clinical Characteristics and Gene Mutations Analysis of a ALS10 Chinese Han Family
- VernacularTitle:家族性肌萎缩侧索硬化症10型的临床特征和基因突变分析
- Author:
Yiming SUN
;
Yuling ZHU
;
Jing LI
;
Huan LI
;
Ruojie HE
;
Liang WANG
;
Menglong CHEN
;
Cheng ZHANG
- Keywords:
amyotrophic lateral sclerosis;
TARDBP gene;
transactivation response DNA-binding protein 43;
mutation
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2017;38(4):545-550
- CountryChina
- Language:Chinese
-
Abstract:
[Objective] To explore the clinical features,genetic characters in family amyotrophic lateral sclerosis (ALS10)patients.[Methods] TARDBP gene mutations in Chinese Han family patients with ALS10 diagnosed by the First Affiliated Hospital of Sun Yat-sen University in 2013 was screened by high-throughput sequencing.[Results] There were 5 patients in three generations in this family.The initial symptoms in all affected members were distal limb muscle weakness and dystrophy at their 50 age.With a rapid progression of symptoms about 8 to 18 months.A homozygous missense mutation (c.892G＞A) were detected in TARDBP gene exon 6 of the propositus,as well as the other three family members without any clinical symptoms.[Conclusion] ALS10 is a faster progressive and shorter survival time FALS.Since there was no effective treatment in ALS10,hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.
