Journal article
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
Pediatric neurology, Vol.156, pp.178-181
07/2024
DOI: 10.1016/j.pediatrneurol.2024.04.007
PMID: 38788280
Abstract
Exome sequencing (ES) is a useful tool in diagnosing suspected mitochondrial disease but can miss pathogenic variants for several reasons. Additional testing, such as muscle biopsy or biochemical testing, can be helpful in exome-negative cases.
We report a patient who presented with repeated episodes of lactic acidosis and failure to thrive.
ES and mitochondrial sequencing were initially negative but clinical suspicion for mitochondrial disease remained high. After muscle biopsy showed evidence of mitochondrial dysfunction, the ES was reanalyzed and revealed novel variants in AARS2.
This case demonstrates the importance of muscle biopsy and biochemical testing in evaluating patients with a high suspicion of mitochondrial disease, even in the genomics era. Closed-loop communication between molecular genetics laboratories and clinical geneticists is an important step to help establish diagnosis in unsolved cases.
Details
- Title: Subtitle
- Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
- Creators
- Elizabeth Pickup - Children's NationalSteven A Moore - University of IowaPim Suwannarat - Colorado Permanente Medical GroupChristina Grant - Children's NationalNicholas Ah Mew - Children's NationalAndrea Gropman - Children's NationalKuntal Sen - Children's National
- Resource Type
- Journal article
- Publication Details
- Pediatric neurology, Vol.156, pp.178-181
- DOI
- 10.1016/j.pediatrneurol.2024.04.007
- PMID
- 38788280
- eISSN
- 1873-5150
- Language
- English
- Electronic publication date
- 04/12/2024
- Date published
- 07/2024
- Academic Unit
- Pathology
- Record Identifier
- 9984630596302771
Metrics
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