# A Unique Pathogenic Heterozygous Hypoxia Up-Regulated Protein 1 (HYOU1) Mutation Presenting With Recurrent Osteomyelitis, Subglottic Stenosis, and Hypoglycemia

## TL;DR

A patient with a rare HYOU1 gene mutation shows symptoms like recurring infections, hypoglycemia, and airway narrowing, suggesting new insights into this genetic disorder.

## Contribution

The paper reports a novel heterozygous HYOU1 mutation and its clinical manifestations in a patient.

## Key findings

- The patient had a heterozygous pathogenic HYOU1 mutation.
- Symptoms included recurrent osteomyelitis, subglottic stenosis, and hypoglycemia.
- This expands the known clinical spectrum of HYOU1-related disorders.

## Abstract

The hypoxia up-regulated protein 1 (HYOU1) gene encodes a chaperone protein involved in maintaining cellular homeostasis by reducing oxidative stress and supporting the unfolded protein response in the endoplasmic reticulum and mitochondria. While homozygous HYOU1 mutations have been previously reported in patients with profound immunodeficiency, pancytopenia, and hypoglycemia, the clinical implications of heterozygous mutations remain less defined. We describe a patient with a heterozygous pathogenic HYOU1 mutation who presents with a longstanding history of recurrent infections, medically treated hypoglycemia, and subglottic stenosis due to repeated intubation and inflammation.