# GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

## TL;DR

A 10-year-old girl with HDR syndrome caused by a GATA3 gene deletion also had juvenile idiopathic arthritis, suggesting a link between GATA3 mutations and autoimmune diseases.

## Contribution

This case expands the known phenotypic spectrum of HDR syndrome to include juvenile idiopathic arthritis.

## Key findings

- A patient with HDR syndrome was found to have oligoarticular juvenile idiopathic arthritis.
- A deletion in the GATA3 gene was identified through exome sequencing and chromosome microarray analysis.
- This case suggests a potential increased risk of autoimmune arthritis in individuals with HDR syndrome.

## Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10-year-old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA). The patient presented for genetics evaluation with bilateral sensorineural hearing loss, oligoarticular JIA, and a renal cyst. Trio-based exome sequencing and chromosome microarray analysis revealed a pathogenic heterozygous ~1.45 Mb deletion that included the entire GATA3 gene, consistent with a diagnosis of HDR syndrome. GATA3 is a risk locus associated with autoimmune disease, including rheumatoid arthritis; however, the link between protein-coding variants in GATA3 and autoimmune disease has not been well established. Previously, a single patient with HDR syndrome and psoriatic JIA was identified as having a frameshift variant in the GATA3 gene. These reports highlight the potential for increased susceptibility to early-onset autoimmune arthritis in HDR syndrome, expanding its phenotypic spectrum. Further studies are needed to investigate the role of pathogenic variants in the GATA3 gene in the pathogenesis of JIA and other autoimmune diseases.