First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant
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View abstract on PubMed
Summary
This summary is machine-generated.Glutaric acidemia type II (GA2), a metabolic disorder, was diagnosed in an Iranian family through genetic testing. A novel ETFA gene variant was identified, enabling prenatal diagnosis and informed family planning.
Area Of Science
- Genetics
- Metabolic Disorders
- Rare Diseases
Background
- Glutaric acidemia type II (GA2), or multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited metabolic disorder affecting amino acid and fatty acid metabolism.
- Clinical presentation of GA2 ranges from severe neonatal onset to milder, later-onset forms.
- A family with a history of infant deaths due to suspected metabolic disorders sought genetic counseling.
Purpose Of The Study
- To identify the genetic cause of GA2 in a family with recurrent infant deaths.
- To provide pre-pregnancy genetic counseling for an Iranian couple.
- To investigate a novel genetic variant associated with GA2.
Main Methods
- Whole exome sequencing (WES) was employed to identify pathogenic variants in the parents of deceased neonates.
- Sanger sequencing was utilized for variant confirmation.
- Bioinformatics tools were used to assess the functional impact of the identified variant on the ETFA protein.
Main Results
- A novel heterozygous in-frame variant (c.485_493del: p.E162_T164del) in the ETFA gene was identified, segregating with autosomal recessive GA2.
- Sanger sequencing confirmed the variant in parents and healthy relatives; in silico analysis indicated its pathogenic nature.
- Prenatal diagnosis of the variant in a fetus led to termination with parental consent.
Conclusions
- This study reports the first case of GA2 caused by an ETFA gene variant in Iran.
- Genetic diagnosis is crucial for managing rare metabolic disorders like GA2, aiding prognosis and family planning.
- Accurate genetic information empowers patients and families with GA2 for better diagnostic insights.
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