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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 300 - 303 (4page)
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Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare conditioninherited as autosomal dominant trait and characterized by hypoparathyroidism,sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiencyof 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 Koreanparents. 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 frequenciesfor 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 performedto prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation.
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등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Al-Shibli A / 2011 / Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia / Pediatr Nephrol 26 : 1167 ~ 1170
Ali A / 2007 / Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding
Bernardini L / 2009 / HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication / Clin Genet 76 : 117 ~ 119
Ferraris S / 2009 / HDR syndrome: a novel “de novo” mutation in GATA3 gene / Am J Med Genet A 149 : 770 ~ 775
Fukami M / 2011 / GATA3 abnormalities in six patients with HDR syndrome / Endocr J 58 : 117 ~ 121
Ali A / 2007 / Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding
Bernardini L / 2009 / HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication / Clin Genet 76 : 117 ~ 119
Ferraris S / 2009 / HDR syndrome: a novel “de novo” mutation in GATA3 gene / Am J Med Genet A 149 : 770 ~ 775
Fukami M / 2011 / GATA3 abnormalities in six patients with HDR syndrome / Endocr J 58 : 117 ~ 121
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