HDR syndrome

HDR syndrome

abbreviation for hypoparathyroidism, sensorineural deafness, and renal anomalies [MIM 146255].
References in periodicals archive ?
More specifically, GATA3 is expressed in the parathyroids, inner ears, and kidneys during development.[sup][2] More than 50 mutations in GATA3 gene have been reported till now.[sup][3] 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. She had normal developmental milestones and had an average grade at school.
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.
In 2016, Belge et al .[sup][5] 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.
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10)(p13).
HDR syndrome: A novel “ de novo ” mutation in GATA3 gene.
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.
Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome (MIM 146255), also known as Barakat syndrome,[sup][1] is a rare autosomal dominant disorder named from a triad of hypoparathyroidism, sensorineural deafness, and renal dysplasia.[sup][2] 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.[sup][6],[7] Compared with sporadic cases, familial cases provide us the opportunity to explore the inheritance pattern and to consider the possible genetic anticipation in patients with HDR.{Figure 1}
In the present study, we identified a nonsense mutation in GATA3 [sup][6] in a hearing impaired Chinese family with various clinical features of HDR syndrome by using targeted capture and next-generation sequencing (NGS).
The reported familial cases of HDR syndrome were summarized in [Table 2] by different mutations.