Daniela Oana Toader1,2, Nicolae Bacalbasa1,3, Radu Ursu1, Dragos Cretoiu1, Lucian G Pop2, Irina Balescu4, Florentina Gherghiceanu5, Florentina Furtunescu6, Daniel Radavoi7,8, Viorica Radoi1. 1. Department of Obstetrics and Ginecology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania. 2. Department of Obstetrics and Ginecology, National Institute of Mother and Child Care-Alessandrescu Rusescu, Bucharest, Romania. 3. Department of Visceral Surgery, Center of Excellence in Translational Medicine, "Fundeni" Clinical Institute, Bucharest, Romania. 4. Department of Surgery, "Ponderas" Academic Hospital, Bucharest, Romania. 5. Department of Marketing and Medical Technology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania. 6. Department of Public Health and Management University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania. 7. Department of Urology, "Prof. Dr. Th. Burghele" Clinical Hospital, Bucharest, Romania. 8. Department of Urology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Abstract
Background/Aim: 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. Case Report: 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 PUF60 gene. We are mindful that changing the classification of a variant of unknown significance is challenging and requires supporting and robust criteria. Considering clinical symptomatology produced by the pathogenic mutation in the PUF gene, the identified c.1640A>G variant may be categorized as likely pathogenic. Conclusion: Our case adds new insights on the pathology and the underlying process involved in the PUF60 variant spectrum disorders. It also highlights the limits of current prenatal tests. Copyright 2021, International Institute of Anticancer Research.
Background/Aim: 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. Case Report: 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 PUF60 gene. We are mindful that changing the classification of a variant of unknown significance is challenging and requires supporting and robust criteria. Considering clinical symptomatology produced by the pathogenic mutation in the PUF gene, the identified c.1640A>G variant may be categorized as likely pathogenic. Conclusion: Our case adds new insights on the pathology and the underlying process involved in the PUF60 variant spectrum disorders. It also highlights the limits of current prenatal tests. Copyright 2021, International Institute of Anticancer Research.
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