KMID : 1036920150200010059
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Annals of Pediatric Endocrinology & Metabolism 2015 Volume.20 No. 1 p.59 ~ p.63
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
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Shim Yong-Suk
Choi Woo-Hyeok Hwang Il-Tae Yang Seung
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Abstract
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
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KEYWORD
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Hypoparathyroidism, Sensorineural hearing loss, Renal dysgenesis, GATA3
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