Chromosome 10

Meiss et al. “GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome”. “American Journal of Medical Genetics Part A” 2025, v. 200 (3), 733-737.

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant condition caused by haploinsufficiency of the zinc-finger transcription factor GATA3 gene located at 10p14. Patients with HDR syndrome present with the triad of symptoms; however, Meiss et al. present a 10-year-old girl with bilateral sensorineural hearing loss, a renal cyst, and oligoarticular juvenile idiopathic arthritis without uveitis. The patient was born following an uncomplicated pregnancy who failed her initial newborn hearing screen. Though, she passed follow-up testing at 2 weeks of age. She was finally diagnosed with conductive hearing loss at 5 years which lead to a tympanostomy tube placement. Postoperative audiology assessment described bilateral sensorineural hearing loss and she was fitted with hearing aids. At 10 years, she was incidentally found to have a renal cyst on imaging and was diagnosed with antinuclear antibody positive oligoarticular juvenile idiopathic arthritis. Subsequent genetic testing via exome sequencing identified a 1.455–1.466Mb pathogenic deletion at 10p14 encompassing GATA3 which was consistent with a diagnosis of HDR syndrome. The authors note that oligoarticular juvenile idiopathic arthritis is a novel clinical finding for HDR syndrome. They argue that GATA3 plays a role in immune dysregulation as other affected patients with HDR have presented with allergic rhinitis and chronic intestinal disorders. Overall, this case expands upon the phenotypic spectrum of HDR syndrome.

Chromosome Disorder Outreach Inc. medical geneticist and medical advisor Dr. Iosif Lurie M.D. Ph.D examines newly published research studies to locate the most important and relevant for our members. Synopses of these articles are then posted to our website’s research pages. Review and formatting by Nicole Talaba, MS CGC. For more information on any article please contact info@chromodisorder.org