sup] In this study, we reported a novel GATA3 gene mutation in a patient with HDR syndrome.
Her parents were nonconsanguineous and had no family history of HDR syndrome.
One year after initial presentation, the patient had bilateral mixed deafness of both low and high frequencies; thus HDR syndrome was considered, and genetic testing was performed for definitive diagnosis.
sup] summarized the presentations of 115 patients with HDR syndrome and demonstrated that 106/112 (95%) had hypoparathyroidism, 106/110 (96%) had various degrees of sensorineural deafness, and 74/115 (64%) had renal anomalies.
However, some patients with HDR syndrome present with hearing loss since childhood or even infancy that becomes more prominent in adolescence.
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10)(p13).
This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases.
sup] The individuals affected by HDR syndrome have various heterogeneous clinical characteristics.
To date, more than fifty GATA3 mutations related with both sporadic and familial HDR syndrome have been reported, and GATA3 haploinsufficiency has been considered as the underlying mechanism.
In the present study, we identified a nonsense mutation in GATA3 [sup] in a hearing impaired Chinese family with various clinical features of HDR syndrome by using targeted capture and next-generation sequencing (NGS).
The genotypes and auditory phenotypes of these familial HDR syndrome cases were summarized.
The reported familial cases of HDR syndrome were summarized in [Table 2] by different mutations.