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Article

A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.

European journal of endocrinology - 1 May 2011

Vivenza Daniela, Godi Michela, Faienza Maria Felicia, Mellone Simona, Moia Stefania, Rapa Anna, Petri Antonella, Bellone Simonetta, Riccomagno Stefania, Cavallo Luciano, Giordano Mara, Bona Gianni

Abstract excerpt

OBJECTIVE: Mutations in HESX1 represent a rare cause of GH deficiency (GHD) associated with a broad spectrum of other anomalies. We searched for causative mutations in a cohort of 244 Italian patients affected by combined and isolated GHD (IGHD). METHODS: The HESX1 gene-coding region and exon-intron boundaries were screened by denaturing HPLC scanning. RESULTS: A novel mutation adjacent to the invariant donor...

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Identifiers

PMID: 21325470
DOI: 10.1530/EJE-11-0047

Genes

HESX1

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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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