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Article

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.

BMC endocrine disorders - 30 Oct 2015

Okawa Tetsuji, Yoshida Masanori, Usui Takeshi, Kudou Takahiro, Iwasaki Yasumasa, Fukuoka Kazuki, Takahashi Norio, Uehara Yuka, Oiso Yutaka

Abstract excerpt

BACKGROUND: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder caused by mutations in the zinc finger transcription factor gene, GATA3. GATA3 has 2 zinc finger domains, which play an important role in the increase in target gene transcription activity. CASE PRESENTATION: A 50-year-old woman and her 27-year-old daughter were followed up because of...

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Identifiers

PMID: 26514990
DOI: 10.1186/s12902-015-0065-7
PMCID: PMC4627412

Genes

GATA3
PTH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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