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Case Reports
, 9 (1), 58-61

Identification of a Novel Insertion Mutation in GATA3 With HDR Syndrome

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Case Reports

Identification of a Novel Insertion Mutation in GATA3 With HDR Syndrome

Yukari Mino et al. Clin Exp Nephrol.

Abstract

Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome. Sequence analysis of GATA3 showed a heterozygous novel mutation in this family: an unusual mutation at exon 3 (709insC) resulting in a premature stop at codon 302 with a loss of both of the zinc finger domains.

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