Exome & General Genetics

Session # 399

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.

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