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Article

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

European journal of endocrinology - 1 Aug 2016

Madeira João L O, Jorge Alexander A L, Martin Regina M, Montenegro Luciana R, Franca Marcela M, Costalonga Everlayny F, Correa Fernanda A, Otto Aline P, Arnhold Ivo J P, Freitas Helayne S, Machado Ubiratan F, Mendonca Berenice B, Carvalho Luciani R

Abstract excerpt

CONTEXT: Mutations in the GH1 promoter are a rare cause of isolated growth hormone deficiency (IGHD). OBJECTIVE: To identify the molecular aetiology of a family with IGHD. DESIGN: DNA sequencing, electromobility shift (EMSA) and luciferase reporter assays. SETTING: University Hospital. PATIENTS: Three siblings (2M) born to consanguineous parents presented with IGHD with normal pituitary on MRI. METHODS: The GH1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27252485
DOI: 10.1530/EJE-15-0149

Genes

GHRHR

Provenance

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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