Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:A Novel Missense Mutation of the
DDHD1
Gene Associated with Juvenile Amyotrophic Lateral Sclerosis. 2799 40
