FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate.
Behich Koyutourk, Dize Deryali, Ayla Turgay et al.
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Case in brief
A male neonate presented with hypotonia and abnormal respiratory effort at birth. Due to the serious and non-specific clinical signs, trio whole-exome sequencing (WES) was performed, revealing a de novo heterozygous frameshift mutation in the FOXG1 gene. Despite intensive care efforts, the infant died within 24 hours of birth, highlighting the critical role of rapid genetic diagnosis in severe neonatal cases.
Diagnostic / clinical pearl
Trio whole-exome sequencing can provide rapid and accurate genetic diagnoses in critically ill neonates, particularly when faced with unexplained severe encephalopathy.
Why it matters
Early identification of genetic conditions like FOXG1 syndrome is essential for guiding management and providing appropriate parental counseling.