STS: Routine genetic testing for thoracic aortic aneurysm in a clinical setting

STS: Routine genetic testing for thoracic aortic aneurysm in a clinical setting

Reportes de Congresos

STS: Routine genetic testing for thoracic aortic aneurysm in a clinical setting a clinical program for routine genetic testing of individuals for TAD via whole exome sequencing

STS: Routine genetic testing for thoracic aortic aneurysm in a clinical setting

• RSi Communications
• 30/01/15

as presented at the Annual Meeting of the Society of Thoracic Surgeons

According to Yale researchers presenting at STS, held in January in San Diego, routine genetic screening of patients with thoracic aortic aneurysm and dissection (TAD) provides information that enables genetically personalized care and permits identification of novel mutations responsible for aortic pathology. 

They offered whole exome sequencing (WES) as an ongoing clinical test to 114 patients (mean age 59.2 years, 77 males [67.5%]) with TAD. Thirteen patients were declined testing for insurance reasons. DNA was extracted from saliva samples collected in Oragene kits. DNA exonic fragments were sequenced on the Illumina HiSeq platform. Mean coverage of the exome was approximately 100x with 96% of the exome covered at least eight times. The resulting sequence was analyzed for single nucleotide variants and small insertions and deletions differing from the reference genome (Human Genome 19, HG19). To date, genetic results were available for 72 patients (71.3%). 

According to the study authors, the following gene panel was tested via WES: ACTA2, COL1A1, COL3A1, COL5A1, COL5A2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, and TGFBR2. Fifty-seven patients (79.2%) had no mutations in the panel of tested genes. One patient (1.4%) had a previously reported heterozygous mutation in the MYLK gene (a missense mutation S1759 [TCC>CCC]). Twelve patients (16.7%) were identified as having suspicious mutations of unknown significance (previously unreported) in one or more of these genes: ACTA2 (n=2), COL5A1 (n=1), COL5A2 (n=1), FBN1 (n=4), MYH11 (n=3), MYLK (n=1), and TGFBR1 (n=1). 

The Yale authors noted that “Previously reported mutations were identified in less than 2% of patients with TAD (much lower than 20% expected from the literature).” But a large number of previously unreported mutations was identified. 

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