Novel splice site mutation in GATA3 in a patient with HDR syndrome

HDR syndrome (OMIM: 146255) is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal dysplasia. It is caused by haploinsufficiency of the dual zinc finger transcription factor GATA3 on chromosome 10p15 (1, 2). To date, more than 70 mutations in GATA3 have been registered in the Human Genome Mutation Database (HGMD, www. hgmd.cf.ac.uk). However, intronic mutations in GATA3 have not yet been reported, except for those affecting the first or second donor or acceptor splice sites. Herein, we report the first case of HDR syndrome caused by a novel intronic mutation in GATA3. Case Report