Objective: Describe a novel mutation on a family affected by  Parkinson´s disease.

Background: 46 years old woman. She came  to hospital complaining about  tremor and muscular cramps in forearms since the last 12 months. At neurological  examination she was cgnitive normal , speech with no disturbances, bilateral rest tremor in hands and forearms and mild rigidity in uper limbs and muscular cramps while writting. No other sings were achived.
Had not relevant personal previous conditions but one uncle and  his son, suffered from tremors.
We asked the patient for genetic testing.

Method: The genetic sequencing test is performed using a custom designed NimbleGen Capture Kit and a Hiseq platform (Illumina) for subsequent sequencing. This platformallows the analysis of> 95% of the target gene with a sensitivity> 99%. Point mutations, micro-insertions, deletions and duplications (<20bp) can be analyzed simultaneously. ( see the table with the genes tested)

Results: Two variants of uncertain clinical significance have been detected. The variant c.554A> G (p.Lys185Arg; Het) in the EIF4G1 gene has not been reported on its pathogenicity, thus its clinical significance is still unknown. Its frequency is 0 in the 1000 genome’s database. It is anticipated that is the cause of Mutation Taster disease. The EIF4G1 gene is associated with Parkinson’s disease autosomal dominant. The variant c.1817-3C> T (Het) in the EIF4G1 gene has not been reported on its pathogenicity. We found the c.554A> G(p.Lys185Arg;
Het) in clinical affected relatives .

Conclusion: Molecular genetics provide a powerful tool in the diagnosis of many neurological diseases.Genetic testing of mutations in disease-causing genes can help better define and classify many of the heterogeneous inherited neurodegenerative disorders. It not only allows early confirmation of diagnosis and appropriate institution of genetic counseling, but it may provide genotype-phenotype correlation, help select specific patients for clinical drug trials, and ultimately provide a better understanding of the pathogenesis and long-term clinical outcome of the disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/eif4g1-gene-variants-in-a-family-affected-by-parkinsons-disease/