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Article

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.

Genes - 8 Apr 2022

Hassan Samar S, Abdullah Mohamed, Trebusak Podkrajsek Katarina, Musa Salwa, Ibrahim Areej, Babiker Omer, Kovac Jernej, Battelino Tadej, Avbelj Stefanija Magdalena

Abstract excerpt

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (POU1F1), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was to identify genetic aetiology in 10 subjects with CPHD from four consanguineous Sudanese families. Medical history,...

Topics

Female
Genes, Homeobox
Humans
Hypopituitarism
Mutation
Pedigree
Transcription Factor Pit-1
Transcription Factors

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35456463
DOI: 10.3390/genes13040657
PMCID: PMC9032872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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