A NOVEL GATA3 NONSENSE MUTATION IN A NEWLY DIAGNOSED ADULT PATIENT OF HYPOTHYROIDISM, DEAFNESS, AND RENAL DYSPLASIA (HDR) SYNDROME

作者：Nanba Kazutaka; Usui Takeshi^*; Nakamura Michikazu; Toyota Yuko; Hirota Keisho; Tamanaha Tamiko; Kawashima Sachiko Tsukamoto; Nakao Kanako; Yuno Akiko; Tagami Tetsuya; Naruse Mitsuhide; Shimatsu Akira

来源：Endocrine Practice, 2013, 19(1): E17-E20.

DOI：10.4158/EP12186.CR

Objective: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.
Methods: A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed.
Results: Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome.
Conclusion: We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

• 出版日期2013-2