Ann Pediatr Res | Volume 4, Issue 5 | Review Article | Open Access

Characteristics of Hearing Loss in the Barakat Syndrome

Amin J Barakat1* and Habib Zalzal2

1Department of Pediatrics, Georgetown University Medical Center, Washington, DC, USA 2Department of Otolaryngology, Children’s National Medical Center, Washington, DC, USA

*Correspondance to: Amin J Barakat 

Fulltext PDF

Abstract

Barakat syndrome, also known as HDR syndrome, is a clinically heterogeneous, rare genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. In most cases, the syndrome is caused by deletions or mutation in the zinc-finger transcription factor GATA3 on chromosome 10p14. Hearing loss is the most consistent feature of the syndrome, occurring in 96% of reported patients. Patients present with early onset, moderate to severe sensorineural hearing loss, usually bilateral and slightly worse at the higher end of the frequency spectrum. The outer hair cells play an important role in the etiology of the hearing loss. Using a next generation sequencing gene panels that included GATA3 in patients with apparently isolated deafness has allowed the early identification of GATA3 mutations in patients with previously unrecognized Barakat syndrome. Hearing treatment should be instituted as early as possible in children to help their speech, language, and social skills reach their full potential. We discuss here the characteristics and genetics of sensorineural hearing loss associated with the Barakat syndrome.

Keywords:

Barakat syndrome; GATA3 mutations; HDR; Sensorineural hearing loss

Citation:

Barakat AJ, Zalzal H. Characteristics of Hearing Loss in the Barakat Syndrome. Ann Pediatr Res. 2020;4(5):1051..

Subscribe to Our Newsletter