Yonsei Med J.  2015 Jan;56(1):300-303. 10.3349/ymj.2015.56.1.300.

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

• Cheon CK
• Kim GH
• Yoo HW

• KMID: 2352821
• DOI: http://doi.org/10.3349/ymj.2015.56.1.300

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.

Keyword

HDR syndrome; GATA3 gene; hypoparathyroidism

MeSH Terms

Base Sequence
DNA Mutational Analysis
GATA3 Transcription Factor/genetics
Hearing Loss, Sensorineural/*genetics/*pathology
Heterozygote
Humans
Hypoparathyroidism/*genetics/*pathology
Infant, Newborn
Kidney/abnormalities/ultrasonography
Male
Molecular Sequence Data
Nephrosis/*genetics/*pathology
Reproducibility of Results
Republic of Korea
Sequence Deletion
GATA3 Transcription Factor

Figure

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  Fig. 1 Renal ultrasound shows a multicystic left dysplastic kidney.

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  Fig. 2 Our case had a heterozygous c.153del mutation of the GATA3 gene. A control study did not reveal any carriers with the c.153del mutation.

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