title: The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.
abstract: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation.
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea. chongkun72@hanmail.net.
authors.forename: Chong Kun
authors.initials: CK
authors.lastname: Cheon
authors.affiliation: Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.affiliation: Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D050990:GATA3 Transcription Factor / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000473:pathology*; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D008969:Molecular Sequence Data; D009401:Nephrosis / Q000235:genetics* / Q000473:pathology*; D015203:Reproducibility of Results; D056910:Republic of Korea; D017384:Sequence Deletion; D014463:Ultrasonography
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human
keywords: GATA3 gene; HDR syndrome; hypoparathyroidism