Value Proposition:
Sturge-Weber syndrome (SWS) is a neurovascular disorder that is often associated with a capillary malformation of the face called a port-wine stain (PWS). SWS is phenotypically related to Klippel-Trenaunay-Weber syndrome (KTWS) which is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. Although SWS is a congenital disorder usually presenting in infancy, most affected individuals survive into adulthood with varying degrees of neurological impairments. Early pre-symptomatic diagnosis of SWS brain involvement is difficult because standard MRI and CT imaging have low sensitivity in the newborn period and early infancy. This invention provides a molecular diagnostic test for SWS and its associated conditions, including PWS and KTWS. Advantages of this technology include:
Technical Details:
The JHU and Duke University inventors have developed a sensitive, specific molecular diagnosis of gene mutations underlying SWS and its associated conditions including PWS and KTWS. Whole genome sequencing of DNA derived from presumably affected tissue (in skin or brain) of three SWS patients as well as DNA from presumably unaffected regions of the same three individuals was performed. A single nucleotide substitution in one gene was found to occur across all three SWS affected patients. The identification of this mutation can be developed into a DNA sequencing-based diagnostic test for SWS and its related disorders.
Publications:
