Newly discovered variants in unexplained neonatal encephalopathy.
Mol Genet Genomic Med
; 12(1): e2354, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-38284441
ABSTRACT
BACKGROUND:
The genetic background of neonatal encephalopathy (NE) is complicated and early diagnosis is beneficial to optimizing therapeutic strategy for patients.METHODS:
NE Patients with unclear etiology received regular clinical tests including ammonia test, metabolic screening test, amplitude-integrated electroencephalographic (aEEG) monitoring, brain Magnetic Resonance Imaging (MRI) scanning, and genetic test. The protein structure change was predicted using Dynamut2 and RoseTTAFold.RESULTS:
15 out of a total of 113 NE Patients were detected with newly reported pathogenic variants. In this sub-cohort, (1) seizure was the primary initial symptoms; (2) four patients had abnormal metabolic screening results, and two of them were also diagnosed with excessive blood ammonia concentration; (3) the brain MRI results were irregular in three infants and the brain waves were of moderate-severe abnormality in about a half of the patients. The novel pathogenic variants discovered in this study belonged to 12 genes, and seven of them were predicted to introduce a premature translation termination. In-silicon predictions showed that four variants were destructive to the protein structure of KCNQ2.CONCLUSION:
Our study expands the mutation spectrum of genes associated with NE and introduces new evidence for molecular diagnosis in this newborn illness.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Amônia
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
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Screening_studies
Limite:
Humans
/
Infant
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Newborn
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China