Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.

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 PU

SUBMITTER: Toader DO 

PROVIDER: S-EPMC8962785 | biostudies-literature | 2021 Jul-Aug

REPOSITORIES: biostudies-literature