Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

نویسندگان

  • Yong Suk Shim
  • Woohyeok Choi
  • Il Tae Hwang
  • Seung Yang
چکیده

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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عنوان ژورنال:

دوره 20  شماره 

صفحات  -

تاریخ انتشار 2015