A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation

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dc.authoridKayhan, Zeynep/0000-0003-0579-1115
dc.authoriderdogan, mehmet ali/0000-0002-1713-5695
dc.authoridHarputluoglu, Muhsin Murat Muhip/0000-0002-9415-147X
dc.authoridERBAY, MEHMET FATİH/0000-0002-1596-3147
dc.authoridYildirim, Oguzhan/0000-0001-8254-0104
dc.authoridCagin, Yasir Furkan/0000-0002-2538-857X
dc.authoridbilgic, yılmaz/0000-0002-2169-5548;
dc.authorwosidKayhan, Zeynep/AAJ-4623-2021
dc.authorwosiderdogan, mehmet ali/ABI-4675-2020
dc.authorwosidSeckin, Yuksel/ABI-3468-2020
dc.authorwosidHarputluoglu, Muhsin Murat Muhip/ABI-3094-2020
dc.authorwosidERBAY, MEHMET FATİH/ABI-2942-2020
dc.authorwosidYildirim, Oguzhan/ABI-8174-2020
dc.authorwosidCagin, Yasir Furkan/ABI-2709-2020
dc.contributor.authorErdogan, Mehmet A.
dc.contributor.authorSeckin, Yuksel
dc.contributor.authorHarputluoglu, Muhsin M.
dc.contributor.authorKarincaoglu, Melih
dc.contributor.authorAladag, Murat
dc.contributor.authorCaliskan, Ali R.
dc.contributor.authorBilgic, Yilmaz
dc.date.accessioned2024-08-04T20:45:36Z
dc.date.available2024-08-04T20:45:36Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction. Copyright (c) 2018 Wolters Kluwer Health, Inc. All rights reserved.en_US
dc.identifier.doi10.1097/MCD.0000000000000250
dc.identifier.endpage25en_US
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue1en_US
dc.identifier.pmid30407211en_US
dc.identifier.scopus2-s2.0-85058690638en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage22en_US
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000250
dc.identifier.urihttps://hdl.handle.net/11616/98580
dc.identifier.volume28en_US
dc.identifier.wosWOS:000453482200004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectautosomal recessive disorderen_US
dc.subjectchronic intestinal pseudo-obstructionen_US
dc.subjectmitochondrial neurogastrointestinal encephalomyopathyen_US
dc.subjectthymidine phosphorylaseen_US
dc.titleA mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutationen_US
dc.typeArticleen_US

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