Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.

@article{Kulkarni2019ClinicalAP,
  title={Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.},
  author={Sakil Kulkarni and Brooj Abro and Maria Laura Duque Lasio and Janis M. Stoll and Dorothy K Grange and Mai He},
  journal={Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society},
  year={2019},
  pages={
          1093526619881541
        }
}
We report a term female infant born to nonconsanguineous parents who presented with renal failure at birth, hypothyroidism, cholestasis, and progressive cardiac dysfunction. Multigene next-generation sequencing panels for cholestasis, cardiomyopathy, and cystic renal disease did not reveal a unifying diagnosis. Whole exome sequencing revealed compound heterozygous pathogenic variants in ANKS6 (Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6), which encodes a protein that interacts… CONTINUE READING