ArticleBMC medical genetics2020
Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Ensemble learning-based predictor for driver synonymous mutation with sequence representation.PLoS computational biology · 2025Article
- Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas.Life (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important role in PPGL. However, genetic screening of PPGL patients has not been widely carried out in clinics in China, and only a few related studies have been reported. CASE PRESENTATION: We report a case of a 23-year-old woman with paraganglioma (PGL) caused by a novel missense SDHB mutation, c.563 T > C (p.Leu188Pro), who presented with paroxysmal hypertension. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a PGL in the right retroperitoneum and no metastasis. The patient was treated with surgical excision and did not have postsurgerical paroxysmal hypertension. In addition, we searched the literature related to variations in SDHB genes in Chinese patients with PPGL using multiple online databases, including PubMed, China Hospital Knowledge Database and Wanfang Data. Ultimately, 14 studies (published between 2006 and 2019) comprising 34 cases of SDHB-related PGL or pheochromocytoma (PCC) were found. In total, 35 patients were enrolled in this study, and 25 mutations were identified. The common genetic alterations of SDHB in China were c.136C > T (11.4%), c.18C > A (11.4%) and c.725G > A (8.5%). Some carriers of SDHB mutations (28.1%) developed metastatic PPGL, and a high frequency of head and neck PGLs (HNPGLs) (59.4%) was reported.
conclusionsWe describe a classic case with a novel SDHB c.563 T > C mutation. Based on our literature review, common SDHB gene mutations in Chinese PPGL patients are c.136C > T, c.18C > A and c.725G > A.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.