ArticleInternational journal of molecular sciences2020
Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.Endocrine connections · 2024Article
- Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome: A case report and review of the literature.World journal of clinical cases · 2024Article
- Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.Frontiers in endocrinology · 2024Article
- Association of birth type and LHX4 gene polymorphism with reproductive hormones, growth hormone, and prolactin in Awassi ewes.Molecular biology reports · 2023Article
- Magnetic resonance imaging characteristics predict pituitary function in non-functional pituitary macro-adenoma undergoing trans-sphenoidal surgery.BMC medical imaging · 2022Article
- Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.Frontiers in endocrinology · 2022Review
- LIM Homeobox 4 (lhx4) regulates retinal neural differentiation and visual function in zebrafish.Scientific reports · 2021Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary function. In this report, we follow up genomic screening of CPHD patient cohort that were previously tested for changes in a coding sequences of genes with the use of the whole exome. We aimed to find contribution of rare copy number variations (CNVs). As a result, we identified genomic imbalances in 7 regions among 12 CPHD patients. Five out of seven regions showed copy gains whereas two presented losses of genomic fragment. Three regions with detected gains encompassed known CPHD genes namely
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Registered trials
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