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Article

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.

Clinical genetics - 1 Jul 2024

Parobek Christian M, Zemet Roni, Shanahan Matthew A, Burnett Brian A, Mizerik Elizabeth, Rosenfeld Jill A, Vossaert Liesbeth, Clark Steven L, Hunter Jill V, Lalani Seema R

Abstract excerpt

Hypoxic-ischemic encephalopathy (HIE) occurs in up to 7 out of 1000 births and accounts for almost a quarter of neonatal deaths worldwide. Despite the name, many newborns with HIE have little evidence of perinatal hypoxia. We hypothesized that some infants with HIE have genetic disorders that resemble encephalopathy. We reviewed genetic results for newborns with HIE undergoing exome or genome sequencing at a...

Topics

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Exome
Exome Sequencing
ACTA1 gene
DUOX2 gene
Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Hypoxia-Ischemia, Brain

Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 38545656
DOI: 10.1111/cge.14522
PMCID: PMC11147704

Genes

ACTA1
DUOX2
GBE1
KIF1A
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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