ArticleJournal of cellular and molecular medicine2020
Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.
Article in Journal of cellular and molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.Frontiers in endocrinology · 2024Pooled it
- A Novel Missense Variant inChildren (Basel, Switzerland) · 2025Article
- Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.Investigational new drugs · 2025Article
- 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
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.PloS one · 2023Article
- Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.Journal of the Endocrine Society · 2022Article
- Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events.Pituitary · 2022Article
- Article
- Novel variant inFrontiers in endocrinology · 2022Article
- Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.Frontiers in endocrinology · 2021Article
- Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms.World journal of gastroenterology · 2020Review
- Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.Journal of cellular and molecular medicine · 2020Article
- Pituitary Stalk Interruption Syndrome: A Case and Literature Review.AACE clinical case reportsArticle
- PITUITARY STALK INTERRUPTION SYNDROME CAUSED BY NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THEActa endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pituitary stalk interruption syndrome (PSIS) is a type of congenital malformation of the anterior pituitary, which leads to isolated growth hormone deficiency or multiple hypothalamic-pituitary deficiencies. Many genetic factors have been explored, but they only account for a minority of the genetic aetiology. To identify novel PSIS pathogenic genes, we conducted whole-exome sequencing with 59 sporadic PSIS patients, followed by filtering gene panels involved in pituitary development, holoprosencephaly and midline abnormality. A total of 81 heterozygous variants, distributed among 59 genes, were identified in 50 patients, with 31 patients carrying polygenic variants. Fourteen of the 59 pathogenic genes clustered to the Hedgehog pathway. Of them, PTCH1 and PTCH2, inhibitors of Hedgehog signalling, showed the most frequent heterozygous mutations (22%, seven missense and one frameshift mutations were identified in 13 patients). Moreover, five novel heterozygous null variants in genes including PTCH2 (p.S391fs, combined with p.L104P), Hedgehog acyltransferase (p.R280X, de novo), MAPK3 (p.H50fs), EGR4 (p.G22fs, combined with LHX4 p.S263N) and SPG11 (p.Q1624X), which lead to truncated proteins, were identified. In conclusion, genetic mutations in the Hedgehog signalling pathway might underlie the complex polygenic background of PSIS, and the findings of our study could extend the understanding of PSIS pathogenic genes.
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