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      Accommodative insufficiency in a patient with Prader–Willi syndrome and SNRPN gene mutation

      case-report

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          Abstract

          Accommodative insufficiency (AI) is common in children, however, has not been described in Prader–Willi syndrome (PWS). This case report presents severe AI in a child with PWS and a rare mutation on chromosome 15 (methylation at locus SNRPN). A 15-year-old boy with PWS presented with the complaint about needing to remove distance glasses while reading. The visual acuity in his right eye was 20/20 with −2.0 D, and in his left eye 20/20 with −2.75/−0.25/173°. The defocus curve manifested with severe AI, and no other abnormal ocular findings were noted. Progressive glasses were recommended. Molecular genetic analysis at the age of two years revealed altered methylation at locus SNRPN on chromosome 15. As muscular hypotonia is common in PWS, the function of smooth muscles, including the ciliary muscle might be altered, as demonstrated in this case report.

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          Most cited references10

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          Over-expression of COX-2 mRNA in colorectal cancer

          Background Cyclooxygenase-2 (COX-2, PTGS2) is an enzyme involved in the synthesis of prostaglandins and thromboxanes, which are regulators of biologic processes such as inflammation, cell proliferation and angiogenesis. COX-2 over-expression was reported in many (pre) malignant tissues, but data strongly vary and seem to depend on the methodology used. Methods Normal colorectal mucosa and paired cancerous tissue from 60 patients with colorectal cancer was investigated for the levels of COX-2 mRNA by real-time quantitative Polymerase Chain Reaction (qPCR). COX-2 levels were expressed relative to either: tissue weight or levels of the housekeeping genes beta-2 microglobulin (B2M) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH). Results COX-2 mRNA levels, normalized with respect to tissue weight or mRNA levels of the housekeeping genes B2M or GAPDH, were over-expressed in 80%, 70% and 40% of the colorectal tumor tissues, as compared to the paired adjacent normal colorectal mucosa samples, respectively. Highest mRNA COX-2 ratios tumor/normal were measured when expressed per mg tissue (mean ratio 21.6). When normalized with respect to the housekeeping genes B2M or GAPDH, mean tumor/normal ratios were 16.1 and 7.5, respectively. Conclusion Expression of COX-2 mRNA levels per mg tissue is most simple in comparison to normalization with respect to the housekeeping genes B2M or GAPDH. Levels of COX-2 mRNA are found over-expressed in almost 80% of the colorectal tumors, compared to paired adjacent normal colorectal mucosa, suggesting a role of COX-2 as a potential biomarker for cancer risk, whereas inhibitors of COX-2 could be of value in chemoprevention of colon cancer.
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            Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.

            Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, obesity and hypogonadotrophic hypogonadism, all highly suggestive of hypothalamic dysfunction. The NDN gene, encoding the MAGE family protein, necdin, maps to the PWS chromosome region and is highly expressed in mature hypothalamic neurons. Adult mice lacking necdin have reduced numbers of gonadotropin-releasing hormone (GnRH) neurons, but the mechanism for this reduction is unknown. Herein, we show that, although necdin is not expressed in an immature, migratory GnRH neuronal cell line (GN11), high levels are present in a mature GnRH neuronal cell line (GT1-7). Furthermore, overexpression of necdin activates GnRH transcription through cis elements bound by the homeodomain repressor Msx that are located in the enhancer and promoter of the GnRH gene, and knock-down of necdin expression reduces GnRH gene expression. In fact, overexpression of Necdin relieves Msx repression of GnRH transcription through these elements and necdin co-immunoprecipitates with Msx from GnRH neuronal cells, indicating that necdin may activate GnRH gene expression by preventing repression of GnRH gene expression by Msx. Finally, necdin is necessary for generation of the full complement of GnRH neurons during mouse development and extension of GnRH axons to the median eminence. Together, these results indicate that lack of necdin during development likely contributes to the hypogonadotrophic hypogonadal phenotype in individuals with PWS.
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              Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

              Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.
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                Author and article information

                Journal
                Saudi J Ophthalmol
                Saudi J Ophthalmol
                SJO
                Saudi Journal of Ophthalmology
                Wolters Kluwer - Medknow (India )
                1319-4534
                2542-6680
                Jan-Mar 2020
                22 November 2020
                : 34
                : 1
                : 56-58
                Affiliations
                [1]Private Practice, Gdańsk, Poland
                Author notes
                Address for correspondence: Piotr Kanclerz, Private Practice, ul. Bema 80, 82-300 Elbląg, Poland. E-mail: p.kanclerz@ 123456gumed.edu.pl
                Article
                SJO-34-56
                10.4103/1319-4534.301291
                7849860
                33542990
                7646dd27-9e06-4c5e-92b5-3d0f87657a70
                Copyright: © 2020 Saudi Journal of Ophthalmology

                This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

                History
                : 19 September 2018
                : 15 May 2019
                Categories
                Case Report

                accommodative insufficiency,defocus curve,prader-willi syndrome,snrpn gene mutation

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