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:C0042963 (
vomiting
)
31,883
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited neurodegenerative disorders mainly affecting children, and at least 13 causative genes (
CLN1
to
CLN8
and
CLN10
to
CLN14
) have been identified. Here, we reported a novel homozygous missense mutation (c.434G > C, p.Arg145Pro) identified in
CLN5
gene via whole exome sequencing in a 5-year-old girl. The patient first presented paroxysmal epilepsy associated with
vomiting
, followed by progressive regression in walking, vision, intelligence and speaking. Combining the molecular and clinical analysis, the diagnosis of NCL could be made, although the missense mutation (c.434G > C, p.Arg145Pro) in
CLN5
was evaluated to be a variant of uncertain significance according to American College of Medical Genetics and Genomics (ACMG) standard. We further performed expression and localization studies and our results provide evidence of impaired cellular trafficking of
CLN5
to lysosome, indicating that this mutation might be deleterious to the function of
CLN5
for its mislocalization. Our study demonstrated the efficacy of next generation sequencing in molecular diagnosis, and a deleterious effect of the variant discovered in our patient on
CLN5
, triggering the NCL disease.
...
PMID:Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis. 3298 31
