Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder.
Pediatr Neurol
; 156: 178-181, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38788280
ABSTRACT
BACKGROUND:
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.METHODS:
We report a patient who presented with repeated episodes of lactic acidosis and failure to thrive.RESULTS:
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.CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Músculo Esquelético
/
Enfermedades Mitocondriales
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article