Title

The Effect of Mutations in the Genes of Diacylglycerol Kinase Theta and Phospholipid Phosphate 7 Proteins on the Progression of Port Wine Stain

Author(s)

Iraine TaineFollow

School Name

Spring Valley High School

Grade Level

10th Grade

Presentation Topic

Cell and Molecular Biology

Presentation Type

Mentored

Abstract

Port wine stain (PWS) is a skin disease that appears in three to five out of every 1000 births. The mutation of the GNAQ gene at (c.548G>A; p.R183Q) is known to be a leading factor behind the development of PWS. Currently, the sub-factors causing PWS remain unclear. Mutations of the DGKQ protein at (c.653G>A; p. C218Y) and the PLPP7 protein at (c.634A>C, p.Lys212Gln) are suspected as potential cofactors. The purpose of this study was to confirm whether the somatic mutations of both genes were present in the skin tissues of subjects with PWS. It was hypothesized that if mutations occurred in the genes coding for DGKQ and PLPP7 proteins, then the disease would progressively worsen due to the growth of abnormal blood vessels. The DNA from 42 skin samples was extracted, a PCR was run, an NGS library was constructed, and the samples were sequenced. The results demonstrated that the DGKQ mutation occurs in 19.0% of PWS patients with an average mutation frequency of 1.741%, The PLPP7 mutation occurs in 14.3% of PWS patients with an average mutation frequency of 2.989%. The data was analyzed statistically using a t-test. The results suggest that the mutations are a secondary factor to the development of PWS in a subpopulation of patients. Positive DGKQ and PLPP7 mutations occurred in macular and hypertrophic lesions but not in nodular lesions, suggesting the mutations are contributing factors to the initial stages of the disease.

Location

HSS 203

Start Date

4-2-2022 11:15 AM

Presentation Format

Oral and Written

Group Project

No

COinS
 
Apr 2nd, 11:15 AM

The Effect of Mutations in the Genes of Diacylglycerol Kinase Theta and Phospholipid Phosphate 7 Proteins on the Progression of Port Wine Stain

HSS 203

Port wine stain (PWS) is a skin disease that appears in three to five out of every 1000 births. The mutation of the GNAQ gene at (c.548G>A; p.R183Q) is known to be a leading factor behind the development of PWS. Currently, the sub-factors causing PWS remain unclear. Mutations of the DGKQ protein at (c.653G>A; p. C218Y) and the PLPP7 protein at (c.634A>C, p.Lys212Gln) are suspected as potential cofactors. The purpose of this study was to confirm whether the somatic mutations of both genes were present in the skin tissues of subjects with PWS. It was hypothesized that if mutations occurred in the genes coding for DGKQ and PLPP7 proteins, then the disease would progressively worsen due to the growth of abnormal blood vessels. The DNA from 42 skin samples was extracted, a PCR was run, an NGS library was constructed, and the samples were sequenced. The results demonstrated that the DGKQ mutation occurs in 19.0% of PWS patients with an average mutation frequency of 1.741%, The PLPP7 mutation occurs in 14.3% of PWS patients with an average mutation frequency of 2.989%. The data was analyzed statistically using a t-test. The results suggest that the mutations are a secondary factor to the development of PWS in a subpopulation of patients. Positive DGKQ and PLPP7 mutations occurred in macular and hypertrophic lesions but not in nodular lesions, suggesting the mutations are contributing factors to the initial stages of the disease.