ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2015; 7(4): 344-348 | DOI: 10.4274/jcrpe.2249

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

Gül Yeşiltepe Mutlu1, Heves Kırmızıbekmez1, Akie Nakamura2, Maki Fukami2, Şükrü Hatun3
1Zeynep Kamil Gynecologic And Pediatric Training And Research Hospital, Clinic Of Pediatric Endocrinology, İstanbul, Turkey
2National Research Institute For Child Health And Development, Setagaya, Japan
3Kocaeli University Faculty Of Medicine, Department Of Pediatric Endocrinology And Diabetes, Kocaeli, Turkey

Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. He also had dysmorphic facial features, renal anomaly (pelvic kidney), and mild sensorineural hearing loss. His cranial computed tomography revealed multiple calcifications in bilateral centrum semiovale, corona radiata, and basal ganglions suggesting a persistent hypoparathyroidism. Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene. This is the second patient who was reported to have a mutation in GATA3 gene from Turkey. In conclusion, although HDR syndrome is a rare condition, it should be kept in mind in patients with hypoparathyroidism. Classical triad can easily be identified if patients diagnosed with hypoparathyroidism are also evaluated with a urinary tract ultrasound and an audiometer.

Keywords: GATA binding protein 3 gene,hypoparathyroidism,deafness,renal dysplasia

Gül Yeşiltepe Mutlu, Heves Kırmızıbekmez, Akie Nakamura, Maki Fukami, Şükrü Hatun. A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. J Clin Res Pediatr Endocrinol. 2015; 7(4): 344-348
Manuscript Language: English
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