Ann Pediatr Endocrinol Metab.  2015 Mar;20(1):59-63. 10.6065/apem.2015.20.1.59.

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

• Shim YS
• Choi W
• Hwang IT
• Yang S

• KMID: 1789533
• DOI: http://doi.org/10.6065/apem.2015.20.1.59

Abstract

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.

Keyword

Hypoparathyroidism; Sensorineural hearing loss; Renal dysgenesis; GATA3

MeSH Terms

Deafness*
Exons
Fathers
Hearing Loss, Sensorineural
Heterozygote
Humans
Hypoparathyroidism*
Mutagenesis, Insertional

Figure

• 

  Fig. 1 Pure tone audiometry and auditory evoked potential show sensorineural hearing loss (HL) both ear (especially left ear, higher frequency) at diagnosis.

• 

  Fig. 2 A mutation was confirmed in exon 2 of the GATA3 gene (c.255_266ins4 (GTGC)) and was identified in both our patient and his father.

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