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- Title
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.
- Authors
Chujun Wu; Dongsheng Fan
- Abstract
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using next-generation sequencing (NGS) technologies were performed on a jALS patient. Sanger sequencing was used to validate identified variants and perform segregation analysis. Results: We identified a novel c.1483A>G (p.Met495Val) homozygous missense mutation of the DDHD1 gene in the jALS patient. All of his parents and young bother were heterozygous for this mutation. The mutation was not found in 800 Chinese control subjects or the database of dbSNP, ExAC and 1000G. Conclusion: The novel c.1483A>G (p.Met495Val) missense mutation of the DDHD1 gene could be a causative mutation of autosomal recessive jALS.
- Subjects
JUVENILE diseases; GENETICS of amyotrophic lateral sclerosis; MISSENSE mutation; FAMILIAL spastic paraplegia; MEDICAL genetics; GENETICS
- Publication
Frontiers in Aging Neuroscience, 2016, Vol 8, p1
- ISSN
1663-4365
- Publication type
Article
- DOI
10.3389/fnagi.2016.00291