ArticleJournal of human genetics2017
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Pooled it
- Genetic variation of the POU1F1 gene and its association with body weight in indonesian local chickens.Tropical animal health and production · 2026Article
- Common and Uncommon Mouse Models of Growth Hormone Deficiency.Endocrine reviews · 2024Review
- Review
- Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.Archives of endocrinology and metabolism · 2023Article
- Unveiling the Etiopathogenic Spectrum of Hypophysitis: A Narrative Review.Journal of personalized medicine · 2023Review
- Analysis ofJournal of clinical medicine · 2022Article
- Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.EClinicalMedicine · 2022Article
- A Novel Splice-Site Deletion in theGenes · 2022Article
- Congenital hypopituitarism due to novel compound heterozygousMolecular genetics and metabolism reports · 2021Article
- A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.Molecular genetics & genomic medicine · 2021Article
- Molecular and Genetic Immune Biomarkers of Primary and Immune-Therapy Induced Hypophysitis: From Laboratories to the Clinical Practice.Journal of personalized medicine · 2021Review
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.American journal of human genetics · 2021Article
- Mutations Within the Transcription FactorJournal of clinical research in pediatric endocrinology · 2020Article
- Article
- [Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Observational
- Impact of Growth Hormone-Related Mutations on Mammalian Aging.Frontiers in genetics · 2018Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy number variants (CNVs) in genes known to cause CPHD and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions were found in three Turkish families and one family from northern Iraq. In one family we identified a 4.96 kb deletion that comprises the first two exons of POU1F1. In three families a homozygous 15.9 kb deletion including complete PROP1 was discovered. Breakpoints map within highly homologous AluY sequences. Haplotype analysis revealed a shared haplotype of 350 kb among PROP1 deletion carriers. For the first time we were able to assign the boundaries of a previously reported PROP1 deletion. This gross deletion shows strong evidence to originate from a common ancestor in patients with Kurdish descent. No CNVs within LHX3, LHX4, HESX1, GH1 and GHRHR were found. Our data prove multiplex ligation-dependent probe amplification to be a valuable tool for the detection of CNVs as cause of pituitary insufficiencies and should be considered as an analytical method particularly in Kurdish patients.
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