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10.1186/s12881-018-0564-2 http://scihub22266oqcxt.onion/10.1186/s12881-018-0564-2 C5870939!5870939!29587644     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29587644&cmd=llinks): Failed to open stream: HTTP request failed! 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A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report |pdf=|usr=}}{{29587644}} gab.com Text A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report JO: BMC Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=29587644 #FOAvip Background: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing?s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The objective of this study was to report a case in which the patient presented with BMAH induced by a novel heterozygous germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) alone rather than a two-hit mutation. Case presentation: A 51-year-old woman was identified with masses in the bilateral adrenals. Serum cortisol levels were increased significantly both in the morning (08:00�AM) and late at night (24:00�AM), while plasma adrenocorticotropic hormone was normal. The patient underwent a left adrenalectomy and histopathology substantiated the BMAH diagnosis. WES of the germline DNA discovered a novel heterozygous germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) and in silico analysis predicted that the mutation significantly impaired protein function, resulting in inactivated ARMC5. Subsequently, WES of the tumor specimen identified 79 somatic single nucleotide polymorphisms (SNPs)/insertion-deletion (indel) mutations, including 32 missense/nonsense/splice/stop-loss mutations. None of these mutations were CS-related. Conclusions: A novel germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) was identified that induced BMAH alone without a second mutation. ARMC5 sequencing may improve the identification of clinical forms of BMAH and allow earlier diagnosis of this disease. Electronic supplementary material: The online version of this article (10.1186/s12881-018-0564-2) contains supplementary material, which is available to authorized users. Twit Text FOAVip A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report ????BMC Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=29587644 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29587644 #FOAvip English Wikipedia <ref>{{Cite pmid|29587644}}</ref> A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report #MMPMID29587644 Liu Q; Tong D; Xu J; Yang X; Yi Y; Zhang D; Wang L; Zhang J; Zhang Y; Li Y; Chang L; Chen R; Guan Y; Yi X; Jiang J BMC Med Genet 2018[]; 19 (�): � PMID29587644show ga Background: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing?s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The objective of this study was to report a case in which the patient presented with BMAH induced by a novel heterozygous germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) alone rather than a two-hit mutation. Case presentation: A 51-year-old woman was identified with masses in the bilateral adrenals. Serum cortisol levels were increased significantly both in the morning (08:00�AM) and late at night (24:00�AM), while plasma adrenocorticotropic hormone was normal. The patient underwent a left adrenalectomy and histopathology substantiated the BMAH diagnosis. WES of the germline DNA discovered a novel heterozygous germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) and in silico analysis predicted that the mutation significantly impaired protein function, resulting in inactivated ARMC5. Subsequently, WES of the tumor specimen identified 79 somatic single nucleotide polymorphisms (SNPs)/insertion-deletion (indel) mutations, including 32 missense/nonsense/splice/stop-loss mutations. None of these mutations were CS-related. Conclusions: A novel germline ARMC5 mutation (c. 517C?>?T, p. Arg173*) was identified that induced BMAH alone without a second mutation. ARMC5 sequencing may improve the identification of clinical forms of BMAH and allow earlier diagnosis of this disease. Electronic supplementary material: The online version of this article (10.1186/s12881-018-0564-2) contains supplementary material, which is available to authorized users. �A novel germline ARMC5 mutation in a patient with bilateral macronodul(epmc).pdf DeepDyve Pubget Overpricing