biostudies-literatureUnknown1(3)Toader DO<h4>Background/aim</h4>The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a "de novo" pathogenic variant of PUF60 gene.<h4>Case report</h4>Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy. During her routine first-trimester anomaly scan, increased nuchal translucency was noticed. Multiple anomalies were seen throughout her subsequent antenatal visits. This triggered a sequence of tests, examinations and differential diagnosis. The final diagnosis was made at 5 months postpartum following the result of the whole exome sequence, which described a variant of unknown clinical significance (VUS, class 3 variant) in the PUCancer diagnosis & prognosis213-219https://www.ebi.ac.uk/biostudies/studies/S-EPMC8962785biostudies-literatureIdentification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.PMC8962785Bacalbasa NBalescu IFurtunescu FCretoiu DUrsu RPop LGToader DORadavoi DGherghiceanu FRadoi VfalseIdentification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.<h4>Background/aim</h4>The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a "de novo" pathogenic variant of PUF60 gene.<h4>Case report</h4>Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy. During her routine first-trimester anomaly scan, increased nuchal translucency was noticed. Multiple anomalies were seen throughout her subsequent antenatal visits. This triggered a sequence of tests, examinations and differential diagnosis. The final diagnosis was made at 5 months postpartum following the result of the whole exome sequence, which described a variant of unknown clinical significance (VUS, class 3 variant) in the PU2021-01-01T00:00:00Z2021 Jul-Aug2025-04-18T16:40:35.459Z2025-04-07T04:00:50.576ZS-EPMC89627853539931510.21873/cdp.10029