Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

• Published in: American journal of medical genetics. Part A Vol. 188; no. 11; pp. 3184 - 3190
• Main Authors: Kumar, Runjun D., Meng, Linyan, Liu, Pengfei, Miyake, Christina Y., Worley, Kim C., Bi, Weimin, Lalani, Seema R.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.11.2022; Wiley Subscription Services, Inc
• Subjects: Diagnosis; Exome - genetics; exome sequencing; Exome Sequencing - methods; genetic diagnosis; Homocystinuria; Humans; Infants; Mitochondria; Phenotype; Phenotypes; rare diseases; Retrospective Studies; Risk factors; Stroke; Stroke - diagnosis; Stroke - genetics; rare diseases; exome sequencing; genetic diagnosis; stroke

Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1%–5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke. We retrospectively analyzed 124...