COL4A2 BRAIN SMALL VESSEL DISEASE (A CASE REPORT OF PREVIOUSLY UNREPORTED MUTATION)

Author(s): Talib SH*, Bhattu SR, Amjad SA, Talib Y, Sachin P, Pranita B and Umesh

A 50 year old male patient presented with right sided weakness, dysarthria and ataxia. Patient’s detailed history was suggestive of 9/11 family members with history of premature death secondary to stroke. Neurological and Clinical Exome Sequencing (CES) utilizing next generation sequencing was used for genetic evaluation and variables. The results suggested COL4A2 variant OMIM phenotype brain small vessel disease with autosomal dominant inheritance. The patient under study having phenocopy of COL4A2 related mutation is described.


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