Ho-ho-ho! Gather ’round, my curious elves, for I have a tale that weaves through the microscopic world of genes and the vast expanse of the human body, much like our journey around the globe on Christmas Eve. In the land of medical mysteries, there’s a gene called NUP85, a tiny but mighty part of the nuclear pore complex, much like the cogs and wheels in my workshop. This gene, my dear friends, has been linked to a very rare and stubborn condition that refuses to be tamed by steroids, known as nephrotic syndrome.

Now, in a faraway Italian village, a young boy was beset with this condition, but alas, his troubles did not end there. His brain, the command center for all the toys and joys, was not developing as it should. He had a head smaller than most, muscles that wouldn’t obey his commands, milestones that remained unmet, and seizures that danced wildly without a tune. The wise doctors peered into his brain with their magical looking glass, an MRI, and saw that it was not quite right, with a corpus callosum as thin as Christmas ribbon and a cerebral cortex as smooth as a frozen lake.

As the boy grew to the tender age of three, the healers of the Pediatric Nephrology Department took him under their wing, only to discover his kidneys were scarred with focal segmental glomerulosclerosis. Despite their best efforts, the boy’s journey ended too soon, just 32 months after the nephrotic syndrome began.

But our story does not end here, for the boy’s legacy carried on through the power of Whole-Exome Sequencing, a spell that reads the book of life letter by letter. Lo and behold, a novel compound heterozygous variant in NUP85 was revealed, a gift from both his mother and father. This discovery was like finding a rare toy hidden in the depths of the workshop, one that shed light on the mysterious NUP85-related disorders.

The scholars reviewed the tales of those affected and expanded our understanding of this ultra-rare genetic condition. It seems that severe neurological phenotypes, like unwelcome lumps of coal, may be part of the NUP85 story, and that this gene plays a role in the brain’s development and function as crucial as the reindeer are to our Christmas Eve flight.

So, let us remember this young boy and the knowledge he brought to the world, for in the realm of science, every story, no matter how small, helps light the way to understanding. And with that, my elves, let us continue our work, for there are many more mysteries to unravel and many more joys to deliver! 🎅🔬🧬