| Title: |
Clinical Exome Sequencing Uncovers a High Frequency of Mendelian Disorders in Infants With Stroke: A Retrospective Analysis |
| Authors: |
Kumar, Runjun D; Meng, Linyan; Liu, Pengfei; Miyake, Christina Y; Worley, Kim C; Bi, Weimin; Lalani, Seema R |
| Source: |
Faculty and Staff Publications |
| Publisher Information: |
DigitalCommons@TMC |
| Publication Year: |
2022 |
| Collection: |
Houston Academy of Medicine-Texas Medical Center (HAM-TMC): DigitalCommons@The Texas Medical Center |
| Subject Terms: |
Exome; Humans; Phenotype; Retrospective Studies; Stroke; Exome Sequencing; genetic diagnosis; rare diseases; Diseases; Genetic Phenomena; Genetic Processes; Medical Genetics; Medical Sciences; Medical Specialties; Medicine and Health Sciences; Pediatrics |
| Description: |
Background: 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. Methods: We retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype. Results: Ages ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional 10.5% of the cohort received a probable diagnosis. We identified several syndromes that predispose to stroke such as COL4A1-related brain small vessel disease, CBS-related homocystinuria, POLG-related disorders, TTC19-related mitochondrial disease, and RNASEH2A associated Aicardi-Goutieres syndrome. We also observed pathogenic variants in NSD1, PKHD1, HRAS and ATP13A2, which are genes rarely associated with stroke. Conclusions: Although stroke is a complex phenotype with varying pathologies and risk factors, these results show that use of exome sequencing can be highly relevant in stroke, especially for those presenting |
| Document Type: |
text |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://digitalcommons.library.tmc.edu/baylor_docs/2970; https://digitalcommons.library.tmc.edu/context/baylor_docs/article/3946/viewcontent/nihms_1848117.pdf |
| DOI: |
10.1002/ajmg.a.62967 |
| Availability: |
https://digitalcommons.library.tmc.edu/baylor_docs/2970; https://doi.org/10.1002/ajmg.a.62967; https://digitalcommons.library.tmc.edu/context/baylor_docs/article/3946/viewcontent/nihms_1848117.pdf |
| Accession Number: |
edsbas.3BE5A4BA |
| Database: |
BASE |