Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation
Biallelic loss of function variants in PNKP can cause a disorder that is challenging to diagnose due to non-specific features such as developmental delay, microcephaly, and seizures.
We present the first report of a patient with a homozygous loss of function variant in PNKP identified via diagnostic exome sequencing (DES) who also presented with birth defects in the VACTERL spectrum including distal type 3 tracheoesophageal fistula. The patient underwent uncomplicated surgical repair for this defect during the 1st week of life.
Early diagnosis via DES helps understand prognosis, provide appropriate interventions, and inform future family planning for parents.