title: A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
abstract: 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.
authors.affiliation: Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Phone: +90 262 303 87 31 E-mail: gulyesiltepe@gmail.com.
authors.forename: Gül
authors.initials: G
authors.lastname: Yeşiltepe Mutlu
authors.forename: Heves
authors.initials: H
authors.lastname: Kırmızıbekmez
authors.forename: Akie
authors.initials: A
authors.lastname: Nakamura
authors.forename: Maki
authors.initials: M
authors.lastname: Fukami
authors.forename: Şükrü
authors.initials: Ş
authors.lastname: Hatun
mesh_terms: D000293:Adolescent; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009401:Nephrosis / Q000175:diagnosis* / Q000235:genetics*; D014421:Turkey
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human