Presentation Title

Exome Analysis of KRIT1 in a Patient with Cerebral Cavernous Malformations

Faculty Mentor

Stephen Gruber

Start Date

17-11-2018 12:30 PM

End Date

17-11-2018 2:30 PM

Location

HARBESON 50

Session

POSTER 2

Type of Presentation

Poster

Subject Area

health_nutrition_clinical_science

Abstract

A patient clinically diagnosed with cerebral cavernous malformation was studied and sequenced. Due to the patient’s family history and ethnicity, we suspected that the they carried a specific and common causal mutation for the disorder (Q248X) in the KRIT1 gene. We amplified the DNA in this region using PCR and discovered that the patient did not possess this mutation through the use of Sanger sequencing. PCRs were then used to amplify all exons of the KRIT1 gene to identify mutations that may have caused the patient’s cerebral cavernous malformation. Polymorphisms were identified in the introns preceding exon 3 and exon 14. A pathogenic polymorphism was identified in exon 14. We then conducted a literature investigation and determined that the patient’s specific exon 14 variant was a nonsense mutation resulting in a premature stop codon during the translation of the KRIT1 protein. We concluded that this mutation was the cause of the patient’s cerebral cavernous malformation.

This document is currently not available here.

Share

COinS
 
Nov 17th, 12:30 PM Nov 17th, 2:30 PM

Exome Analysis of KRIT1 in a Patient with Cerebral Cavernous Malformations

HARBESON 50

A patient clinically diagnosed with cerebral cavernous malformation was studied and sequenced. Due to the patient’s family history and ethnicity, we suspected that the they carried a specific and common causal mutation for the disorder (Q248X) in the KRIT1 gene. We amplified the DNA in this region using PCR and discovered that the patient did not possess this mutation through the use of Sanger sequencing. PCRs were then used to amplify all exons of the KRIT1 gene to identify mutations that may have caused the patient’s cerebral cavernous malformation. Polymorphisms were identified in the introns preceding exon 3 and exon 14. A pathogenic polymorphism was identified in exon 14. We then conducted a literature investigation and determined that the patient’s specific exon 14 variant was a nonsense mutation resulting in a premature stop codon during the translation of the KRIT1 protein. We concluded that this mutation was the cause of the patient’s cerebral cavernous malformation.