Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

doi:10.1016/j.gim.2024.101293

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Article

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

Ball Megan, Bouffler Sophie E, Barnett Christopher B, Freckmann Mary-Louise, Hunter Matthew F, Kamien Benjamin, Kassahn Karin S, Lunke Sebastian, Patel Chirag V, Pinner Jason, Roscioli Tony, Sandaradura Sarah A, Scott Hamish S, Tan Tiong Y, Wallis Mathew, Compton Alison G, Thorburn David R, Stark Zornitza, Christodoulou John

Abstract excerpt

PURPOSE: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a national program. METHODS: Ultrarapid genomic sequencing was performed in 454 families (genome sequencing: n = 290, exome sequencing +/- mitochondrial DNA sequencing: n = 164). In 91 individuals, MD was...

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Topics

Humans
Mitochondrial Diseases
Infant
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Critical Illness

Child

Child, Preschool

High-Throughput Nucleotide Sequencing

Genetic Testing

Infant, Newborn

DNA, Mitochondrial

Retrospective Studies

Exome Sequencing

Genomics

Mutation

Source

Open in PubMed

Identifiers

PMID: 39417332
DOI: 10.1016/j.gim.2024.101293

Genes

CRLS1
MRPL39

Provenance

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