Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.

ABSTRACT:

Background

Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.

Methods

After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG guidelines and the patient's phenotype.

Results

Through whole-exo

SUBMITTER: Ford CP 

PROVIDER: S-EPMC10724509 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature