An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15

Barakat syndrome, also known as HDR syndrome (HDRS), is an autosomal dominant genetic disease classically characterized by hypoparathyroidism (H), deafness (D), and renal disease (R). Less than 200 patients have been reported in the literature since it was first described in 1977 and has meanwhile been shown to have considerable genotypic variability. Barakat syndrome is usually caused by a mutation or knockout in <i>GATA3</i>, a zinc finger protein found on chromosome 10p14 which plays a role in embryologic formation of the central nervous system, thymus, auditory apparatus, kidney, and parathyroid glands. A spectrum of genetic variances in this gene has been related to HDRS, including both noncoding and coding regions with subsequent point mutations, wild-type protein disturbances, and haploinsufficiency. This case presents a 38-year-old female patient with recurrent urinary infections, hearing loss, and chronic kidney disease who underwent extensive laboratory, radiological, and genetic analysis which demonstrated a <i>GATA3</i> mutation in the 10p15 location. This specific genetic variability is currently absent on the gnomAD database, highlighting the rarity of the mutation. It is crucial to identify rare presentations of Barakat syndrome to allow for the best management, which often revolves around symptomatic management. HDRS prognosis is often determined by the progression of renal disease and thus should be the primary focus of the physician's care of the patient. This case contributes to the body of literature supporting the unique presentation and genetic variability of Barakat syndrome.