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Article

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.

Frontiers in endocrinology - 1 Jan 2023

Gonçalves Catarina I, Carriço Josianne N, Omar Omneya M, Abdalla Ebtesam, Lemos Manuel C

Abstract excerpt

The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with HDR syndrome caused by a heterozygous mutation located at the splice acceptor site of exon 5 of the GATA3 gene (NM_001002295.2: c.925-1G>T). Functional studies using a minigene...

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Identifiers

PMID: 37600721
DOI: 10.3389/fendo.2023.1207425
PMCID: PMC10436458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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